dbVar Variant Summary
Here you will find a summary of dbVar variant types and links to more details in the Study and Variant Pages. Refer to dbVar Overview for an Overview of dbVar and description of all the types and pages,
Last updated: Monday, September 18, 2023.
Please note: You can link to counts for specific studies in the sections following "All Studies", for example:
All Studies
nstd1
Study Page: nstd1 (Tuzun et al. 2005).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 102 | deletion | 102 | nssv96 | "nstd1"[study] AND "deletion"[variant_type] |
insertion | 139 | insertion | 139 | nssv99 | "nstd1"[study] AND "insertion"[variant_type] |
inversion | 56 | inversion | 56 | nssv98 | "nstd1"[study] AND "inversion"[variant_type] |
Total | 297 | 297 |
nstd2
Study Page: nstd2 (Kidd et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2777 | deletion | 3992 | nssv9995 | "nstd2"[study] AND "deletion"[variant_type] |
insertion | 4407 | insertion | 5812 | nssv9999 | "nstd2"[study] AND "insertion"[variant_type] |
inversion | 274 | inversion | 1146 | nssv9954 | "nstd2"[study] AND "inversion"[variant_type] |
Total | 7458 | 10950 |
nstd4
Study Page: nstd4 (Perry et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2949 | copy number gain | 9147 | nssv29278 | "nstd4"[study] AND "copy number gain"[variant_type] |
copy number loss | 8670 | nssv29270 | "nstd4"[study] AND "copy number loss"[variant_type] | ||
Total | 2949 | 17817 |
nstd6
Study Page: nstd6 (Mills et al. 2006).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 216212 | deletion | 216212 | nssv99999 | "nstd6"[study] AND "deletion"[variant_type] |
insertion | 199222 | insertion | 199222 | nssv99998 | "nstd6"[study] AND "insertion"[variant_type] |
Total | 415434 | 415434 |
nstd8
Study Page: nstd8 (Perry et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 791 | copy number gain | 2597 | nssv454630 | "nstd8"[study] AND "copy number gain"[variant_type] |
copy number loss | 1904 | nssv454593 | "nstd8"[study] AND "copy number loss"[variant_type] | ||
Total | 791 | 4501 |
nstd11
Study Page: nstd11 (Walter et al. 2009).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 181 | copy number gain | 90 | nssv459496 | "nstd11"[study] AND "copy number gain"[variant_type] |
copy number loss | 113 | nssv459497 | "nstd11"[study] AND "copy number loss"[variant_type] | ||
copy-neutral loss of heterozygosity | 8 | nssv459409 | "nstd11"[study] AND "copy-neutral loss of heterozygosity"[variant_type] | ||
Total | 181 | 211 |
nstd12
Study Page: nstd12 (Marshall et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 2 | complex substitution | 2 | nssv563391 | "nstd12"[study] AND "complex substitution"[variant_type] |
copy number variation | 2288 | copy number gain | 1958 | nssv566031 | "nstd12"[study] AND "copy number gain"[variant_type] |
copy number loss | 1436 | nssv566018 | "nstd12"[study] AND "copy number loss"[variant_type] | ||
Total | 2290 | 3396 |
nstd14
Study Page: nstd14 (Cooper et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 368 | copy number gain | 110 | nssv463344 | "nstd14"[study] AND "copy number gain"[variant_type] |
copy number loss | 258 | nssv463413 | "nstd14"[study] AND "copy number loss"[variant_type] | ||
Total | 368 | 368 |
nstd16
Study Page: nstd16 (Korbel et al. 2007).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 847 | deletion | 847 | nssv466804 | "nstd16"[study] AND "deletion"[variant_type] |
insertion | 321 | insertion | 321 | nssv466803 | "nstd16"[study] AND "insertion"[variant_type] |
inversion | 122 | inversion | 122 | nssv466750 | "nstd16"[study] AND "inversion"[variant_type] |
Total | 1290 | 1290 |
nstd17
Study Page: nstd17 (Conrad et al. 2005).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 935 | copy number loss | 935 | nssv467739 | "nstd17"[study] AND "copy number loss"[variant_type] |
Total | 935 | 935 |
nstd20
Study Page: nstd20 (McCarroll et al. 2006).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 539 | copy number loss | 3905 | nssv471644 | "nstd20"[study] AND "copy number loss"[variant_type] |
Total | 539 | 3905 |
nstd21
Study Page: nstd21 (Shaikh et al. 2009).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 13566 | copy number gain | 8544 | nssv706124 | "nstd21"[study] AND "copy number gain"[variant_type] |
copy number loss | 45918 | nssv706123 | "nstd21"[study] AND "copy number loss"[variant_type] | ||
Total | 13566 | 54462 |
nstd22
Study Page: nstd22 (McCarroll et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1319 | copy number gain | 7581 | nssv1660645 | "nstd22"[study] AND "copy number gain"[variant_type] |
copy number loss | 36473 | nssv1660665 | "nstd22"[study] AND "copy number loss"[variant_type] | ||
Total | 1319 | 44054 |
nstd23
Study Page: nstd23 (Young et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 1 | deletion | 25 | nssv1671983 | "nstd23"[study] AND "deletion"[variant_type] |
copy number variation | 9 | deletion | 104 | nssv1672034 | "nstd23"[study] AND "deletion"[variant_type] |
duplication | 28 | nssv1672060 | "nstd23"[study] AND "duplication"[variant_type] | ||
Total | 10 | 157 |
nstd27
Study Page: nstd27 (Itsara et al. 2009).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 13843 | copy number gain | 3880 | nssv645974 | "nstd27"[study] AND "copy number gain"[variant_type] |
copy number loss | 9963 | nssv645994 | "nstd27"[study] AND "copy number loss"[variant_type] | ||
Total | 13843 | 13843 |
nstd28
Study Page: nstd28 (Zhang et al. 2009).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 6 | copy number loss | 6 | nssv544363 | "nstd28"[study] AND "copy number loss"[variant_type] |
Total | 6 | 6 |
nstd29
Study Page: nstd29 (Locke et al. 2006).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 388 | copy number gain | 2802 | nssv1676713 | "nstd29"[study] AND "copy number gain"[variant_type] |
copy number loss | 1854 | nssv1676716 | "nstd29"[study] AND "copy number loss"[variant_type] | ||
Total | 388 | 4656 |
nstd30
Study Page: nstd30 (Jakobsson et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1428 | copy number gain | 1119 | nssv547796 | "nstd30"[study] AND "copy number gain"[variant_type] |
copy number loss | 2317 | nssv547799 | "nstd30"[study] AND "copy number loss"[variant_type] | ||
Total | 1428 | 3436 |
nstd31
Study Page: nstd31 (Alkan et al. 2009).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 226 | copy number gain | 565 | nssv548406 | "nstd31"[study] AND "copy number gain"[variant_type] |
copy number loss | 42 | nssv548366 | "nstd31"[study] AND "copy number loss"[variant_type] | ||
Total | 226 | 607 |
nstd32
Study Page: nstd32 (Sharp et al. 2005).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 119 | copy number gain | 889 | nssv650996 | "nstd32"[study] AND "copy number gain"[variant_type] |
copy number loss | 1489 | nssv650995 | "nstd32"[study] AND "copy number loss"[variant_type] | ||
Total | 119 | 2378 |
nstd33
Study Page: nstd33 (Sharp et al. 2007).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 4 | copy number loss | 4 | nssv551233 | "nstd33"[study] AND "copy number loss"[variant_type] |
Total | 4 | 4 |
nstd34
Study Page: nstd34 (Hinds et al. 2005).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 100 | copy number loss | 100 | nssv646094 | "nstd34"[study] AND "copy number loss"[variant_type] |
Total | 100 | 100 |
nstd35
Study Page: nstd35 (Kidd et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 31 | complex substitution | 31 | nssv3020474 | "nstd35"[study] AND "complex substitution"[variant_type] |
novel sequence insertion | 9794 | novel sequence insertion | 9794 | nssv3020550 | "nstd35"[study] AND "novel sequence insertion"[variant_type] |
Total | 9825 | 9825 |
nstd36
Study Page: nstd36 (Mitsui et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 395 | deletion | 352 | nssv650315 | "nstd36"[study] AND "deletion"[variant_type] |
duplication | 45 | nssv650309 | "nstd36"[study] AND "duplication"[variant_type] | ||
Total | 395 | 397 |
nstd37
Study Page: nstd37 (Miller et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
Total | 20391 | 33378 |
nstd39
Study Page: nstd39 (Schuster et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 187 | copy number gain | 172 | nssv558583 | "nstd39"[study] AND "copy number gain"[variant_type] |
copy number loss | 15 | nssv558577 | "nstd39"[study] AND "copy number loss"[variant_type] | ||
Total | 187 | 187 |
nstd40
Study Page: nstd40 (Sharp et al. 2006).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 592 | copy number gain | 3167 | nssv3021974 | "nstd40"[study] AND "copy number gain"[variant_type] |
copy number loss | 1737 | nssv3021975 | "nstd40"[study] AND "copy number loss"[variant_type] | ||
sequence alteration | 97 | sequence alteration | 151 | nssv3010725 | "nstd40"[study] AND "sequence alteration"[variant_type] |
Total | 689 | 5055 |
nstd41
Study Page: nstd41 (Iafrate et al. 2004).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 255 | copy number gain | 290 | nssv2996563 | "nstd41"[study] AND "copy number gain"[variant_type] |
copy number loss | 393 | nssv2996562 | "nstd41"[study] AND "copy number loss"[variant_type] | ||
Total | 255 | 683 |
nstd42
Study Page: nstd42 (Sharp et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 11 | nssv566908 | "nstd42"[study] AND "copy number loss"[variant_type] |
Total | 1 | 11 |
nstd43
Study Page: nstd43 (Kim et al. 2009).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1286 | copy number gain | 612 | nssv1419879 | "nstd43"[study] AND "copy number gain"[variant_type] |
copy number loss | 689 | nssv1419878 | "nstd43"[study] AND "copy number loss"[variant_type] | ||
insertion | 32 | insertion | 32 | nssv1418919 | "nstd43"[study] AND "insertion"[variant_type] |
Total | 1318 | 1333 |
nstd45
Study Page: nstd45 (Riggs et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 364 | copy number gain | 39 | nssv4004222 | "nstd45"[study] AND "copy number gain"[variant_type] |
copy number loss | 358 | nssv8635345 | "nstd45"[study] AND "copy number loss"[variant_type] | ||
Total | 364 | 397 |
nstd46
Study Page: nstd46 (Campbell et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1183 | copy number gain | 121034 | nssv2995875 | "nstd46"[study] AND "copy number gain"[variant_type] |
copy number loss | 106346 | nssv2995785 | "nstd46"[study] AND "copy number loss"[variant_type] | ||
Total | 1183 | 227380 |
nstd47
Study Page: nstd47 (Kidd et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1058 | copy number gain | 427 | nssv586548 | "nstd47"[study] AND "copy number gain"[variant_type] |
copy number loss | 631 | nssv586538 | "nstd47"[study] AND "copy number loss"[variant_type] | ||
inversion | 109 | inversion | 109 | nssv585599 | "nstd47"[study] AND "inversion"[variant_type] |
Total | 1167 | 1167 |
nstd49
Study Page: nstd49 (Teague et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 239 | complex substitution | 336 | nssv624375 | "nstd49"[study] AND "complex substitution"[variant_type] |
inversion | 8 | nssv624360 | "nstd49"[study] AND "inversion"[variant_type] | ||
copy number variation | 878 | deletion | 1208 | nssv622822 | "nstd49"[study] AND "deletion"[variant_type] |
insertion | 1089 | insertion | 1761 | nssv623878 | "nstd49"[study] AND "insertion"[variant_type] |
inversion | 17 | inversion | 29 | nssv624363 | "nstd49"[study] AND "inversion"[variant_type] |
sequence alteration | 1974 | sequence alteration | 3682 | nssv624286 | "nstd49"[study] AND "sequence alteration"[variant_type] |
Total | 4197 | 7024 |
nstd50
Study Page: nstd50 (Arlt et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1856 | copy number gain | 102 | nssv626698 | "nstd50"[study] AND "copy number gain"[variant_type] |
copy number loss | 1754 | nssv626808 | "nstd50"[study] AND "copy number loss"[variant_type] | ||
insertion | 684 | insertion | 684 | nssv627016 | "nstd50"[study] AND "insertion"[variant_type] |
inversion | 97 | inversion | 97 | nssv626980 | "nstd50"[study] AND "inversion"[variant_type] |
Total | 2637 | 2637 |
nstd51
Study Page: nstd51 (User submitted curated variants).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
Total | 229 | 230 |
nstd52
Study Page: nstd52 (Watkins et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv628513 | "nstd52"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd53
Study Page: nstd53 (Tüttelmann et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 900 | copy number gain | 1576 | nssv1499049 | "nstd53"[study] AND "copy number gain"[variant_type] |
copy number loss | 1701 | nssv1499048 | "nstd53"[study] AND "copy number loss"[variant_type] | ||
Total | 900 | 3277 |
nstd54
Study Page: nstd54 (Cooper et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 81345 | copy number gain | 59880 | nssv999467 | "nstd54"[study] AND "copy number gain"[variant_type] |
copy number loss | 409029 | nssv999999 | "nstd54"[study] AND "copy number loss"[variant_type] | ||
Total | 81345 | 468909 |
nstd55
Study Page: nstd55 (Zhu et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 7 | deletion | 9 | nssv650721 | "nstd55"[study] AND "deletion"[variant_type] |
Total | 7 | 9 |
nstd58
Study Page: nstd58 (Forsberg et al. 2012).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 2 | complex substitution | 2 | nssv1415557 | "nstd58"[study] AND "complex substitution"[variant_type] |
copy number variation | 5 | copy number gain | 2 | nssv1415559 | "nstd58"[study] AND "copy number gain"[variant_type] |
copy number loss | 3 | nssv1415556 | "nstd58"[study] AND "copy number loss"[variant_type] | ||
Total | 7 | 7 |
nstd59
Study Page: nstd59 (Lopez-Herrera et al. 2012).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | deletion | 1 | nssv1495772 | "nstd59"[study] AND "deletion"[variant_type] |
Total | 1 | 1 |
nstd64
Study Page: nstd64 (Wang et al. 2007).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1383 | copy number gain | 927 | nssv1418540 | "nstd64"[study] AND "copy number gain"[variant_type] |
copy number loss | 2060 | nssv1418546 | "nstd64"[study] AND "copy number loss"[variant_type] | ||
Total | 1383 | 2987 |
nstd65
Study Page: nstd65 (Ju et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1299 | deletion | 1016 | nssv1421174 | "nstd65"[study] AND "deletion"[variant_type] |
duplication | 283 | nssv1421178 | "nstd65"[study] AND "duplication"[variant_type] | ||
Total | 1299 | 1299 |
nstd66
Study Page: nstd66 (Sebat et al. 2004).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 81 | copy number gain | 131 | nssv1421412 | "nstd66"[study] AND "copy number gain"[variant_type] |
copy number loss | 108 | nssv1421417 | "nstd66"[study] AND "copy number loss"[variant_type] | ||
Total | 81 | 239 |
nstd67
Study Page: nstd67 (Park et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 7950 | copy number gain | 5502 | nssv1441512 | "nstd67"[study] AND "copy number gain"[variant_type] |
copy number loss | 14597 | nssv1441516 | "nstd67"[study] AND "copy number loss"[variant_type] | ||
Total | 7950 | 20099 |
nstd68
Study Page: nstd68 (Wong et al. 2006).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 5132 | copy number gain | 7048 | nssv1456207 | "nstd68"[study] AND "copy number gain"[variant_type] |
copy number loss | 7661 | nssv1456225 | "nstd68"[study] AND "copy number loss"[variant_type] | ||
Total | 5132 | 14709 |
nstd71
Study Page: nstd71 (Xu et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 45084 | copy number gain | 32555 | nssv1601261 | "nstd71"[study] AND "copy number gain"[variant_type] |
copy number loss | 69657 | nssv1601257 | "nstd71"[study] AND "copy number loss"[variant_type] | ||
Total | 45084 | 102212 |
nstd72
Study Page: nstd72 (Morak et al. 2012).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 5 | deletion | 5 | nssv2995880 | "nstd72"[study] AND "deletion"[variant_type] |
Total | 5 | 5 |
nstd73
Study Page: nstd73 (Dogan et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 8965 | deletion | 7302 | nssv3005672 | "nstd73"[study] AND "deletion"[variant_type] |
duplication | 1663 | nssv3003153 | "nstd73"[study] AND "duplication"[variant_type] | ||
insertion | 144 | insertion | 144 | nssv3005544 | "nstd73"[study] AND "insertion"[variant_type] |
Total | 9109 | 9109 |
nstd75
Study Page: nstd75 (Wapner et al. 2012).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 927 | copy number gain | 1676 | nssv1607642 | "nstd75"[study] AND "copy number gain"[variant_type] |
copy number loss | 743 | nssv1607643 | "nstd75"[study] AND "copy number loss"[variant_type] | ||
Total | 927 | 2419 |
nstd76
Study Page: nstd76 (Watson et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 2 | complex substitution | 2 | nssv1607658 | "nstd76"[study] AND "complex substitution"[variant_type] |
copy number variation | 2 | deletion | 2 | nssv1607660 | "nstd76"[study] AND "deletion"[variant_type] |
insertion | 4 | insertion | 6 | nssv1607661 | "nstd76"[study] AND "insertion"[variant_type] |
tandem duplication | 1 | tandem duplication | 2 | nssv1607655 | "nstd76"[study] AND "tandem duplication"[variant_type] |
Total | 9 | 12 |
nstd77
Study Page: nstd77 (Polley et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2 | copy number variation | 10684 | nssv7487009 | "nstd77"[study] AND "copy number variation"[variant_type] |
Total | 2 | 10684 |
nstd78
Study Page: nstd78 (Schrider et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 17 | deletion | 17 | nssv1607678 | "nstd78"[study] AND "deletion"[variant_type] |
insertion | 21 | insertion | 21 | nssv1607699 | "nstd78"[study] AND "insertion"[variant_type] |
Total | 38 | 38 |
nstd79
Study Page: nstd79 (Dittwald et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 64 | deletion | 1103 | nssv1612826 | "nstd79"[study] AND "deletion"[variant_type] |
duplication | 1110 | nssv1612824 | "nstd79"[study] AND "duplication"[variant_type] | ||
Total | 64 | 2213 |
nstd80
Study Page: nstd80 (Boone et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1512 | deletion | 3785 | nssv1616611 | "nstd80"[study] AND "deletion"[variant_type] |
Total | 1512 | 3785 |
nstd81
Study Page: nstd81 (Low et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number gain | 2 | nssv1660667 | "nstd81"[study] AND "copy number gain"[variant_type] |
Total | 1 | 2 |
nstd82
Study Page: nstd82 (Sudmant et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 28214 | deletion | 322967 | nssv3442520 | "nstd82"[study] AND "deletion"[variant_type] |
duplication | 1006362 | nssv2766832 | "nstd82"[study] AND "duplication"[variant_type] | ||
Total | 28214 | 1329329 |
nstd83
Study Page: nstd83 (Morak et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 15 | deletion | 15 | nssv3020585 | "nstd83"[study] AND "deletion"[variant_type] |
translocation | 10 | interchromosomal translocation | 20 | nssv3020570 | "nstd83"[study] AND "interchromosomal translocation"[variant_type] |
Total | 25 | 35 |
nstd84
Study Page: nstd84 (de Ligt et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 10376 | copy number gain | 5299 | nssv1671721 | "nstd84"[study] AND "copy number gain"[variant_type] |
copy number loss | 5765 | nssv1671731 | "nstd84"[study] AND "copy number loss"[variant_type] | ||
Total | 10376 | 11064 |
nstd85
Study Page: nstd85 (Vulto-van Silfhout et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1416 | copy number gain | 838 | nssv2768491 | "nstd85"[study] AND "copy number gain"[variant_type] |
copy number loss | 825 | nssv2768495 | "nstd85"[study] AND "copy number loss"[variant_type] | ||
Total | 1416 | 1663 |
nstd86
Study Page: nstd86 (Poultney et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1030 | deletion | 418 | nssv3021969 | "nstd86"[study] AND "deletion"[variant_type] |
duplication | 966 | nssv3021971 | "nstd86"[study] AND "duplication"[variant_type] | ||
Total | 1030 | 1386 |
nstd89
Study Page: nstd89 (de Boer et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
mobile element insertion | 1 | mobile element insertion | 1 | nssv3217055 | "nstd89"[study] AND "mobile element insertion"[variant_type] |
Total | 1 | 1 |
nstd90
Study Page: nstd90 (dbSNP curated variants).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 954 | deletion | 954 | nssv14043468 | "nstd90"[study] AND "deletion"[variant_type] |
delins | 252 | delins | 252 | nssv14043461 | "nstd90"[study] AND "delins"[variant_type] |
insertion | 3506 | insertion | 3509 | nssv14043466 | "nstd90"[study] AND "insertion"[variant_type] |
mobile element insertion | 2 | mobile element insertion | 3 | nssv14041281 | "nstd90"[study] AND "mobile element insertion"[variant_type] |
novel sequence insertion | 1 | novel sequence insertion | 4 | nssv14043253 | "nstd90"[study] AND "novel sequence insertion"[variant_type] |
Total | 4715 | 4722 |
nstd91
Study Page: nstd91 (Sallustio et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 148 | copy number gain | 43 | nssv3217194 | "nstd91"[study] AND "copy number gain"[variant_type] |
copy number loss | 105 | nssv3217203 | "nstd91"[study] AND "copy number loss"[variant_type] | ||
Total | 148 | 148 |
nstd92
Study Page: nstd92 (Forsberg et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 19 | complex substitution | 19 | nssv3217438 | "nstd92"[study] AND "complex substitution"[variant_type] |
copy number variation | 226 | copy number gain | 17 | nssv3217446 | "nstd92"[study] AND "copy number gain"[variant_type] |
copy number loss | 209 | nssv3217448 | "nstd92"[study] AND "copy number loss"[variant_type] | ||
Total | 245 | 245 |
nstd93
Study Page: nstd93 (Lindstrand et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv3397476 | "nstd93"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd94
Study Page: nstd94 (Helman et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
mobile element insertion | 8568 | mobile element insertion | 177458 | nssv3394906 | "nstd94"[study] AND "mobile element insertion"[variant_type] |
Total | 8568 | 177458 |
nstd97
Study Page: nstd97 (Lou et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2558 | deletion | 15926 | nssv4023098 | "nstd97"[study] AND "deletion"[variant_type] |
duplication | 2949 | nssv4023095 | "nstd97"[study] AND "duplication"[variant_type] | ||
Total | 2558 | 18875 |
nstd98
Study Page: nstd98 (Campbell et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 16 | deletion | 15 | nssv3761539 | "nstd98"[study] AND "deletion"[variant_type] |
duplication | 3 | nssv3761533 | "nstd98"[study] AND "duplication"[variant_type] | ||
Total | 16 | 18 |
nstd99
Study Page: nstd99 (Thareja et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 9319 | deletion | 7622 | nssv3773075 | "nstd99"[study] AND "deletion"[variant_type] |
duplication | 1697 | nssv3773076 | "nstd99"[study] AND "duplication"[variant_type] | ||
insertion | 585 | insertion | 585 | nssv3773059 | "nstd99"[study] AND "insertion"[variant_type] |
inversion | 135 | inversion | 135 | nssv3773039 | "nstd99"[study] AND "inversion"[variant_type] |
translocation | 1077 | interchromosomal translocation | 602 | nssv3773078 | "nstd99"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 475 | nssv3773077 | "nstd99"[study] AND "intrachromosomal translocation"[variant_type] | ||
Total | 11116 | 11116 |
nstd100
Study Page: nstd100 (Coe et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 70319 | copy number gain | 146233 | nssv3761521 | "nstd100"[study] AND "copy number gain"[variant_type] |
copy number loss | 172542 | nssv3761519 | "nstd100"[study] AND "copy number loss"[variant_type] | ||
Total | 70319 | 318775 |
nstd101
Study Page: nstd101 (Kaminsky et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
Total | 3105 | 3833 |
nstd102
Study Page: nstd102 (Clinical Structural Variants).
nstd103
Study Page: nstd103 (LSDB submitted variants).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
Total | 130 | 130 |
nstd104
Study Page: nstd104 (Dumanski et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 328 | nssv3761961 | "nstd104"[study] AND "copy number loss"[variant_type] |
Total | 1 | 328 |
nstd105
Study Page: nstd105 (Onozawa et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
insertion | 171 | insertion | 171 | nssv4004212 | "nstd105"[study] AND "insertion"[variant_type] |
Total | 171 | 171 |
nstd106
Study Page: nstd106 (Alsmadi et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 31223 | deletion | 30823 | nssv3995601 | "nstd106"[study] AND "deletion"[variant_type] |
duplication | 4237 | nssv3993245 | "nstd106"[study] AND "duplication"[variant_type] | ||
insertion | 1044 | insertion | 1044 | nssv3993357 | "nstd106"[study] AND "insertion"[variant_type] |
inversion | 1137 | inversion | 1218 | nssv3993558 | "nstd106"[study] AND "inversion"[variant_type] |
tandem duplication | 3412 | tandem duplication | 3976 | nssv3994060 | "nstd106"[study] AND "tandem duplication"[variant_type] |
translocation | 2862 | interchromosomal translocation | 1679 | nssv4025986 | "nstd106"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 1211 | nssv4025988 | "nstd106"[study] AND "intrachromosomal translocation"[variant_type] | ||
Total | 39678 | 44188 |
nstd107
Study Page: nstd107 (John et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 5363 | deletion | 2891 | nssv4004040 | "nstd107"[study] AND "deletion"[variant_type] |
duplication | 2472 | nssv4004035 | "nstd107"[study] AND "duplication"[variant_type] | ||
insertion | 1580 | insertion | 1580 | nssv4004041 | "nstd107"[study] AND "insertion"[variant_type] |
inversion | 114 | inversion | 114 | nssv4003903 | "nstd107"[study] AND "inversion"[variant_type] |
translocation | 1383 | interchromosomal translocation | 922 | nssv4004024 | "nstd107"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 461 | nssv4004025 | "nstd107"[study] AND "intrachromosomal translocation"[variant_type] | ||
Total | 8440 | 8440 |
nstd109
Study Page: nstd109 (Wildschutte et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
mobile element insertion | 1614 | alu insertion | 1614 | nssv4042683 | "nstd109"[study] AND "alu insertion"[variant_type] |
Total | 1614 | 1614 |
nstd111
Study Page: nstd111 (Lou et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2233 | deletion | 12685 | nssv4041069 | "nstd111"[study] AND "deletion"[variant_type] |
duplication | 2396 | nssv4040908 | "nstd111"[study] AND "duplication"[variant_type] | ||
Total | 2233 | 15081 |
nstd112
Study Page: nstd112 (Sudmant et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 15012 | copy number variation | 945877 | nssv7457585 | "nstd112"[study] AND "copy number variation"[variant_type] |
deletion | 1690063 | nssv7458941 | "nstd112"[study] AND "deletion"[variant_type] | ||
duplication | 667357 | nssv7457811 | "nstd112"[study] AND "duplication"[variant_type] | ||
Total | 15012 | 3303297 |
nstd113
Study Page: nstd113 (Polyak et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 9010 | copy number gain | 8901 | nssv7475768 | "nstd113"[study] AND "copy number gain"[variant_type] |
copy number loss | 7927 | nssv7475769 | "nstd113"[study] AND "copy number loss"[variant_type] | ||
Total | 9010 | 16828 |
nstd116
Study Page: nstd116 (Forni et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number variation | 1285 | nssv8641364 | "nstd116"[study] AND "copy number variation"[variant_type] |
Total | 1 | 1285 |
nstd118
Study Page: nstd118 (Polley et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2 | copy number variation | 3917 | nssv8639264 | "nstd118"[study] AND "copy number variation"[variant_type] |
Total | 2 | 3917 |
nstd122
Study Page: nstd122 (Duyzend et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 94923 | copy number gain | 125173 | nssv8635319 | "nstd122"[study] AND "copy number gain"[variant_type] |
copy number loss | 911922 | nssv8635318 | "nstd122"[study] AND "copy number loss"[variant_type] | ||
Total | 94923 | 1037095 |
nstd124
Study Page: nstd124 (Binder et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
insertion | 1 | insertion | 1 | nssv8635346 | "nstd124"[study] AND "insertion"[variant_type] |
mobile element insertion | 1 | alu insertion | 1 | nssv8635347 | "nstd124"[study] AND "alu insertion"[variant_type] |
Total | 2 | 2 |
nstd125
Study Page: nstd125 (Wills et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 2 | complex substitution | 3 | nssv13638307 | "nstd125"[study] AND "complex substitution"[variant_type] |
copy number variation | 6 | copy number gain | 3 | nssv13638284 | "nstd125"[study] AND "copy number gain"[variant_type] |
copy number loss | 7 | nssv13638299 | "nstd125"[study] AND "copy number loss"[variant_type] | ||
copy-neutral loss of heterozygosity | 26 | copy-neutral loss of heterozygosity | 26 | nssv13638310 | "nstd125"[study] AND "copy-neutral loss of heterozygosity"[variant_type] |
Total | 34 | 39 |
nstd127
Study Page: nstd127 (Dumanski et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 248 | nssv8641612 | "nstd127"[study] AND "copy number loss"[variant_type] |
Total | 1 | 248 |
nstd128
Study Page: nstd128 (Mallick et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
short tandem repeat | 1328521 | short tandem repeat | 4394628 | nssv9999999 | "nstd128"[study] AND "short tandem repeat"[variant_type] |
Total | 1328521 | 4394628 |
nstd129
Study Page: nstd129 (Guo et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv8641613 | "nstd129"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd130
Study Page: nstd130 (Leppa et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 39657 | deletion | 52346 | nssv13638270 | "nstd130"[study] AND "deletion"[variant_type] |
duplication | 58118 | nssv13638271 | "nstd130"[study] AND "duplication"[variant_type] | ||
Total | 39657 | 110464 |
nstd132
Study Page: nstd132 (Walker et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 6173 | copy number loss | 15888 | nssv13676513 | "nstd132"[study] AND "copy number loss"[variant_type] |
Total | 6173 | 15888 |
nstd133
Study Page: nstd133 (Redin et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex chromosomal rearrangement | 245 | copy number gain | 16 | nssv13660481 | "nstd133"[study] AND "copy number gain"[variant_type] |
copy number loss | 37 | nssv13660625 | "nstd133"[study] AND "copy number loss"[variant_type] | ||
interchromosomal translocation | 495 | nssv13660621 | "nstd133"[study] AND "interchromosomal translocation"[variant_type] | ||
intrachromosomal translocation | 285 | nssv13660624 | "nstd133"[study] AND "intrachromosomal translocation"[variant_type] | ||
inversion | 87 | nssv13660509 | "nstd133"[study] AND "inversion"[variant_type] | ||
translocation | 1 | interchromosomal translocation | 1 | nssv13660168 | "nstd133"[study] AND "interchromosomal translocation"[variant_type] |
Total | 246 | 921 |
nstd136
Study Page: nstd136 (SKY-CGH).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
Total | 0 | 0 |
nstd137
Study Page: nstd137 (Huddleston et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 12109 | deletion | 12109 | nssv13711663 | "nstd137"[study] AND "deletion"[variant_type] |
insertion | 20773 | insertion | 22952 | nssv13711667 | "nstd137"[study] AND "insertion"[variant_type] |
inversion | 72 | inversion | 93 | nssv13711296 | "nstd137"[study] AND "inversion"[variant_type] |
Total | 32954 | 35154 |
nstd139
Study Page: nstd139 (Luo et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv14038721 | "nstd139"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd140
Study Page: nstd140 (Fan et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 8787 | deletion | 8787 | nssv14038446 | "nstd140"[study] AND "deletion"[variant_type] |
insertion | 13857 | insertion | 13857 | nssv14038445 | "nstd140"[study] AND "insertion"[variant_type] |
Total | 22644 | 22644 |
nstd141
Study Page: nstd141 (Rambo-Martin et al. 2018).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 123 | copy number gain | 59 | nssv14038720 | "nstd141"[study] AND "copy number gain"[variant_type] |
copy number loss | 215 | nssv14038662 | "nstd141"[study] AND "copy number loss"[variant_type] | ||
Total | 123 | 274 |
nstd142
Study Page: nstd142 (Rahbari et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
sequence alteration | 3 | sequence alteration | 7 | nssv14038728 | "nstd142"[study] AND "sequence alteration"[variant_type] |
Total | 3 | 7 |
nstd143
Study Page: nstd143 (Shang et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 1 | complex substitution | 1 | nssv14038740 | "nstd143"[study] AND "complex substitution"[variant_type] |
copy number variation | 17 | deletion | 8 | nssv14038746 | "nstd143"[study] AND "deletion"[variant_type] |
duplication | 9 | nssv14038745 | "nstd143"[study] AND "duplication"[variant_type] | ||
Total | 18 | 18 |
nstd144
Study Page: nstd144 (Gardner et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 3142 | alu deletion | 2937 | nssv14063478 | "nstd144"[study] AND "alu deletion"[variant_type] |
line1 deletion | 205 | nssv14063405 | "nstd144"[study] AND "line1 deletion"[variant_type] | ||
mobile element insertion | 34656 | alu insertion | 25573 | nssv14081900 | "nstd144"[study] AND "alu insertion"[variant_type] |
line1 insertion | 8610 | nssv14081904 | "nstd144"[study] AND "line1 insertion"[variant_type] | ||
sva insertion | 1097 | nssv14081779 | "nstd144"[study] AND "sva insertion"[variant_type] | ||
Total | 37798 | 38422 |
nstd145
Study Page: nstd145 (Lu et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 8237 | deletion | 25186 | nssv14109454 | "nstd145"[study] AND "deletion"[variant_type] |
duplication | 1731 | nssv14109440 | "nstd145"[study] AND "duplication"[variant_type] | ||
Total | 8237 | 26917 |
nstd149
Study Page: nstd149 (Gambin et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 36 | copy number loss | 41 | nssv14109495 | "nstd149"[study] AND "copy number loss"[variant_type] |
Total | 36 | 41 |
nstd151
Study Page: nstd151 (Exome Aggregation Consortium CNVs).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 49339 | copy number gain | 77362 | nssv14236267 | "nstd151"[study] AND "copy number gain"[variant_type] |
copy number loss | 49409 | nssv14236268 | "nstd151"[study] AND "copy number loss"[variant_type] | ||
Total | 49339 | 126771 |
nstd152
Study Page: nstd152 (Chaisson et al. 2019).
nstd153
Study Page: nstd153 (Szafranski et al. 2018).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 8 | copy number loss | 8 | nssv14252587 | "nstd153"[study] AND "copy number loss"[variant_type] |
Total | 8 | 8 |
nstd154
Study Page: nstd154 (Möller et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | deletion | 7 | nssv14236275 | "nstd154"[study] AND "deletion"[variant_type] |
Total | 1 | 7 |
nstd155
Study Page: nstd155 (Adewoye et al. 2018).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 1 | complex substitution | 2502 | nssv14238777 | "nstd155"[study] AND "complex substitution"[variant_type] |
Total | 1 | 2502 |
nstd156
Study Page: nstd156 (Fu et al. 2018).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 963 | deletion | 9301 | nssv14252544 | "nstd156"[study] AND "deletion"[variant_type] |
duplication | 2500 | nssv14252541 | "nstd156"[study] AND "duplication"[variant_type] | ||
Total | 963 | 11796 |
nstd157
Study Page: nstd157 (Frenkel et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1907 | copy number gain | 1530 | nssv14471996 | "nstd157"[study] AND "copy number gain"[variant_type] |
copy number loss | 2872 | nssv14471995 | "nstd157"[study] AND "copy number loss"[variant_type] | ||
Total | 1907 | 4402 |
nstd158
Study Page: nstd158 (Cleal et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1013 | deletion | 684 | nssv14240391 | "nstd158"[study] AND "deletion"[variant_type] |
duplication | 329 | nssv14240398 | "nstd158"[study] AND "duplication"[variant_type] | ||
inversion | 353 | inversion | 353 | nssv14240127 | "nstd158"[study] AND "inversion"[variant_type] |
translocation | 255 | interchromosomal translocation | 255 | nssv14240382 | "nstd158"[study] AND "interchromosomal translocation"[variant_type] |
Total | 1621 | 1621 |
nstd159
Study Page: nstd159 (Kucukkilic et al. 2018).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2 | copy number variation | 350 | nssv14240748 | "nstd159"[study] AND "copy number variation"[variant_type] |
Total | 2 | 350 |
nstd161
Study Page: nstd161 (Nazaryan-Petersen et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex chromosomal rearrangement | 4 | interchromosomal translocation | 14 | nssv15745562 | "nstd161"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 27 | nssv15745559 | "nstd161"[study] AND "intrachromosomal translocation"[variant_type] | ||
Total | 4 | 41 |
nstd162
Study Page: nstd162 (Audano et al. 2019).
nstd163
Study Page: nstd163 (Gupta et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 3 | deletion | 8 | nssv14472004 | "nstd163"[study] AND "deletion"[variant_type] |
Total | 3 | 8 |
nstd164
Study Page: nstd164 (Karolak et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 10 | copy number loss | 13 | nssv14814888 | "nstd164"[study] AND "copy number loss"[variant_type] |
Total | 10 | 13 |
nstd165
Study Page: nstd165 (Bhaskaran et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 7 | deletion | 7 | nssv15605715 | "nstd165"[study] AND "deletion"[variant_type] |
Total | 7 | 7 |
nstd166
Study Page: nstd166 (gnomAD_Structural_Variants).
nstd167
Study Page: nstd167 (Wenger et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 13434 | deletion | 13436 | nssv15200705 | "nstd167"[study] AND "deletion"[variant_type] |
insertion | 16784 | insertion | 17198 | nssv15206220 | "nstd167"[study] AND "insertion"[variant_type] |
Total | 30218 | 30634 |
nstd168
Study Page: nstd168 (Levy-Sakin et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 464 | complex substitution | 471 | nssv15222631 | "nstd168"[study] AND "complex substitution"[variant_type] |
copy number variation | 9153 | deletion | 9106 | nssv15222648 | "nstd168"[study] AND "deletion"[variant_type] |
duplication | 47 | nssv15222517 | "nstd168"[study] AND "duplication"[variant_type] | ||
insertion | 6495 | insertion | 6495 | nssv15222651 | "nstd168"[study] AND "insertion"[variant_type] |
inversion | 276 | inversion | 276 | nssv15222542 | "nstd168"[study] AND "inversion"[variant_type] |
translocation | 36 | interchromosomal translocation | 25 | nssv15220351 | "nstd168"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 11 | nssv15222038 | "nstd168"[study] AND "intrachromosomal translocation"[variant_type] | ||
Total | 16424 | 16431 |
nstd169
Study Page: nstd169 (Giner-Delgado et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
inversion | 45 | inversion | 45 | nssv15607186 | "nstd169"[study] AND "inversion"[variant_type] |
Total | 45 | 45 |
nstd171
Study Page: nstd171 (Wong et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 4378 | deletion | 4378 | nssv15707336 | "nstd171"[study] AND "deletion"[variant_type] |
Total | 4378 | 4378 |
nstd172
Study Page: nstd172 (Deng et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 4659 | deletion | 7470 | nssv15754714 | "nstd172"[study] AND "deletion"[variant_type] |
duplication | 1682 | nssv15754713 | "nstd172"[study] AND "duplication"[variant_type] | ||
Total | 4659 | 9152 |
nstd173
Study Page: nstd173 (Zarrei et al. 2019).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 23548 | copy number gain | 42440 | nssv15702958 | "nstd173"[study] AND "copy number gain"[variant_type] |
copy number loss | 47976 | nssv15702957 | "nstd173"[study] AND "copy number loss"[variant_type] | ||
copy number variation | 978 | nssv15702860 | "nstd173"[study] AND "copy number variation"[variant_type] | ||
Total | 23548 | 91394 |
nstd174
Study Page: nstd174 (DGV Gold Standard).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 38176 | copy number gain | 6209 | nssv15713545 | "nstd174"[study] AND "copy number gain"[variant_type] |
copy number loss | 31976 | nssv15745521 | "nstd174"[study] AND "copy number loss"[variant_type] | ||
Total | 38176 | 38185 |
nstd175
Study Page: nstd175 (Genome in a Bottle).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 5195 | deletion | 5195 | nssv15768560 | "nstd175"[study] AND "deletion"[variant_type] |
delins | 695 | delins | 695 | nssv15768473 | "nstd175"[study] AND "delins"[variant_type] |
insertion | 6855 | insertion | 6855 | nssv15768573 | "nstd175"[study] AND "insertion"[variant_type] |
Total | 12745 | 12745 |
nstd177
Study Page: nstd177 (Louzada et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 22 | deletion | 10 | nssv15768589 | "nstd177"[study] AND "deletion"[variant_type] |
duplication | 13 | nssv15768602 | "nstd177"[study] AND "duplication"[variant_type] | ||
Total | 22 | 23 |
nstd178
Study Page: nstd178 (Karolak et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv15768603 | "nstd178"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd179
Study Page: nstd179 (Bertuzzi et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | deletion | 1 | nssv16091441 | "nstd179"[study] AND "deletion"[variant_type] |
Total | 1 | 1 |
nstd180
Study Page: nstd180 (Levchenko et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | deletion | 1 | nssv16091660 | "nstd180"[study] AND "deletion"[variant_type] |
Total | 1 | 1 |
nstd181
Study Page: nstd181 (Alcoverro et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | deletion | 2 | nssv16091768 | "nstd181"[study] AND "deletion"[variant_type] |
Total | 1 | 2 |
nstd182
Study Page: nstd182 (Al-Mubarak et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 5 | copy number gain | 2 | nssv16091772 | "nstd182"[study] AND "copy number gain"[variant_type] |
copy number loss | 3 | nssv16091773 | "nstd182"[study] AND "copy number loss"[variant_type] | ||
Total | 5 | 5 |
nstd183
Study Page: nstd183 (DECIPHER Consensus CNVs).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 55675 | deletion | 42513 | nssv16154039 | "nstd183"[study] AND "deletion"[variant_type] |
duplication | 19561 | nssv16154037 | "nstd183"[study] AND "duplication"[variant_type] | ||
Total | 55675 | 62074 |
nstd184
Study Page: nstd184 (Gomez et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv16154040 | "nstd184"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd185
Study Page: nstd185 (Puig et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | deletion | 1 | nssv16181389 | "nstd185"[study] AND "deletion"[variant_type] |
inversion | 18 | inversion | 18 | nssv16181401 | "nstd185"[study] AND "inversion"[variant_type] |
Total | 19 | 19 |
nstd186
Study Page: nstd186 (NCBI Curated Common Structural Variants).
nstd187
Study Page: nstd187 (Hughes et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number variation | 142 | nssv16215031 | "nstd187"[study] AND "copy number variation"[variant_type] |
Total | 1 | 142 |
nstd189
Study Page: nstd189 (Pérez-Palma et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2181 | deletion | 658 | nssv16211527 | "nstd189"[study] AND "deletion"[variant_type] |
duplication | 1840 | nssv16211533 | "nstd189"[study] AND "duplication"[variant_type] | ||
Total | 2181 | 2498 |
nstd190
Study Page: nstd190 (Williams et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 241 | deletion | 241 | nssv16211774 | "nstd190"[study] AND "deletion"[variant_type] |
Total | 241 | 241 |
nstd191
Study Page: nstd191 (Dai et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
inversion | 1 | inversion | 1 | nssv16214889 | "nstd191"[study] AND "inversion"[variant_type] |
Total | 1 | 1 |
nstd192
Study Page: nstd192 (Smajlagic et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 35 | deletion | 25 | nssv16215387 | "nstd192"[study] AND "deletion"[variant_type] |
duplication | 34 | nssv16215371 | "nstd192"[study] AND "duplication"[variant_type] | ||
Total | 35 | 59 |
nstd193
Study Page: nstd193 (Teekakirikul et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | deletion | 5 | nssv16215106 | "nstd193"[study] AND "deletion"[variant_type] |
Total | 1 | 5 |
nstd194
Study Page: nstd194 (Lee et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
insertion | 1114 | insertion | 1114 | nssv16216501 | "nstd194"[study] AND "insertion"[variant_type] |
Total | 1114 | 1114 |
nstd195
Study Page: nstd195 (Mwapagha et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 12955 | copy number variation | 5370 | nssv16252130 | "nstd195"[study] AND "copy number variation"[variant_type] |
deletion | 12289 | nssv16252128 | "nstd195"[study] AND "deletion"[variant_type] | ||
insertion | 19 | insertion | 19 | nssv16250380 | "nstd195"[study] AND "insertion"[variant_type] |
inversion | 450 | inversion | 500 | nssv16252085 | "nstd195"[study] AND "inversion"[variant_type] |
tandem duplication | 226 | tandem duplication | 230 | nssv16251834 | "nstd195"[study] AND "tandem duplication"[variant_type] |
translocation | 1100 | interchromosomal translocation | 1100 | nssv16252120 | "nstd195"[study] AND "interchromosomal translocation"[variant_type] |
Total | 14750 | 19508 |
nstd197
Study Page: nstd197 (Boujemaa et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 280 | copy number gain | 159 | nssv16253895 | "nstd197"[study] AND "copy number gain"[variant_type] |
copy number loss | 324 | nssv16253893 | "nstd197"[study] AND "copy number loss"[variant_type] | ||
Total | 280 | 483 |
nstd198
Study Page: nstd198 (Hanlon et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
inversion | 234 | inversion | 3053 | nssv16258891 | "nstd198"[study] AND "inversion"[variant_type] |
Total | 234 | 3053 |
nstd199
Study Page: nstd199 (Quan et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 20162 | deletion | 19441 | nssv16296918 | "nstd199"[study] AND "deletion"[variant_type] |
duplication | 721 | nssv16296897 | "nstd199"[study] AND "duplication"[variant_type] | ||
insertion | 17423 | insertion | 17424 | nssv16296919 | "nstd199"[study] AND "insertion"[variant_type] |
inversion | 442 | inversion | 442 | nssv16296837 | "nstd199"[study] AND "inversion"[variant_type] |
Total | 38027 | 38028 |
nstd200
Study Page: nstd200 (Abel et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 238145 | deletion | 193996 | nssv16592164 | "nstd200"[study] AND "deletion"[variant_type] |
duplication | 44149 | nssv16595971 | "nstd200"[study] AND "duplication"[variant_type] | ||
inversion | 1703 | inversion | 1703 | nssv16596187 | "nstd200"[study] AND "inversion"[variant_type] |
mobile element deletion | 8093 | alu deletion | 7038 | nssv16592047 | "nstd200"[study] AND "alu deletion"[variant_type] |
line1 deletion | 859 | nssv16591979 | "nstd200"[study] AND "line1 deletion"[variant_type] | ||
sva deletion | 196 | nssv16589861 | "nstd200"[study] AND "sva deletion"[variant_type] | ||
translocation | 51151 | interchromosomal translocation | 3109 | nssv16596109 | "nstd200"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 48042 | nssv16596258 | "nstd200"[study] AND "intrachromosomal translocation"[variant_type] | ||
Total | 299092 | 299092 |
nstd201
Study Page: nstd201 (Favilla et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 4 | copy number gain | 1 | nssv16297004 | "nstd201"[study] AND "copy number gain"[variant_type] |
copy number loss | 3 | nssv16297007 | "nstd201"[study] AND "copy number loss"[variant_type] | ||
Total | 4 | 4 |
nstd202
Study Page: nstd202 (Ghazali et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2 | copy number gain | 1 | nssv16596260 | "nstd202"[study] AND "copy number gain"[variant_type] |
copy number loss | 1 | nssv16596259 | "nstd202"[study] AND "copy number loss"[variant_type] | ||
Total | 2 | 2 |
nstd203
Study Page: nstd203 (Borges-Monroy et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
mobile element insertion | 140215 | alu insertion | 113439 | nssv16736560 | "nstd203"[study] AND "alu insertion"[variant_type] |
line1 insertion | 18602 | nssv16736559 | "nstd203"[study] AND "line1 insertion"[variant_type] | ||
sva insertion | 8174 | nssv16736447 | "nstd203"[study] AND "sva insertion"[variant_type] | ||
Total | 140215 | 140215 |
nstd204
Study Page: nstd204 (Chen et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 121310 | copy number variation | 93453 | nssv16865862 | "nstd204"[study] AND "copy number variation"[variant_type] |
deletion | 22856 | nssv16865846 | "nstd204"[study] AND "deletion"[variant_type] | ||
duplication | 5002 | nssv16756689 | "nstd204"[study] AND "duplication"[variant_type] | ||
inversion | 187 | inversion | 187 | nssv16756567 | "nstd204"[study] AND "inversion"[variant_type] |
mobile element deletion | 3331 | alu deletion | 2955 | nssv16865705 | "nstd204"[study] AND "alu deletion"[variant_type] |
line1 deletion | 281 | nssv16861591 | "nstd204"[study] AND "line1 deletion"[variant_type] | ||
sva deletion | 95 | nssv16776425 | "nstd204"[study] AND "sva deletion"[variant_type] | ||
translocation | 4337 | interchromosomal translocation | 282 | nssv16776399 | "nstd204"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 4055 | nssv16776682 | "nstd204"[study] AND "intrachromosomal translocation"[variant_type] | ||
Total | 129165 | 129166 |
nstd205
Study Page: nstd205 (Kwong et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 15 | deletion | 13 | nssv16736576 | "nstd205"[study] AND "deletion"[variant_type] |
duplication | 2 | nssv16736566 | "nstd205"[study] AND "duplication"[variant_type] | ||
delins | 1 | delins | 1 | nssv16736573 | "nstd205"[study] AND "delins"[variant_type] |
Total | 16 | 16 |
nstd206
Study Page: nstd206 (Byrska-Bishop et al. 2022).
nstd207
Study Page: nstd207 (Ebert et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 43150 | deletion | 43150 | nssv17171352 | "nstd207"[study] AND "deletion"[variant_type] |
insertion | 64430 | insertion | 68180 | nssv17171356 | "nstd207"[study] AND "insertion"[variant_type] |
inversion | 416 | inversion | 416 | nssv17171152 | "nstd207"[study] AND "inversion"[variant_type] |
Total | 107996 | 111746 |
nstd208
Study Page: nstd208 (Si et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2 | deletion | 2 | nssv16865864 | "nstd208"[study] AND "deletion"[variant_type] |
Total | 2 | 2 |
nstd209
Study Page: nstd209 (Almarri et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 125835 | copy number variation | 65432 | nssv17517434 | "nstd209"[study] AND "copy number variation"[variant_type] |
deletion | 68098 | nssv17469633 | "nstd209"[study] AND "deletion"[variant_type] | ||
duplication | 7290 | nssv17469613 | "nstd209"[study] AND "duplication"[variant_type] | ||
insertion | 25084 | insertion | 25084 | nssv17469618 | "nstd209"[study] AND "insertion"[variant_type] |
inversion | 1895 | inversion | 1895 | nssv17469222 | "nstd209"[study] AND "inversion"[variant_type] |
Total | 152814 | 167799 |
nstd211
Study Page: nstd211 (Chuang et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
mobile element insertion | 56732 | alu insertion | 59609 | nssv17233320 | "nstd211"[study] AND "alu insertion"[variant_type] |
herv insertion | 129 | nssv17233192 | "nstd211"[study] AND "herv insertion"[variant_type] | ||
line1 insertion | 14235 | nssv17253140 | "nstd211"[study] AND "line1 insertion"[variant_type] | ||
sva insertion | 5847 | nssv17253141 | "nstd211"[study] AND "sva insertion"[variant_type] | ||
Total | 56732 | 79820 |
nstd212
Study Page: nstd212 (Wu et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 71361 | deletion | 67405 | nssv17649848 | "nstd212"[study] AND "deletion"[variant_type] |
duplication | 3956 | nssv17649804 | "nstd212"[study] AND "duplication"[variant_type] | ||
insertion | 60068 | insertion | 60182 | nssv17649849 | "nstd212"[study] AND "insertion"[variant_type] |
inversion | 769 | inversion | 769 | nssv17649817 | "nstd212"[study] AND "inversion"[variant_type] |
Total | 132198 | 132312 |
nstd213
Study Page: nstd213 (Pham et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 5408 | copy number gain | 2791 | nssv17683352 | "nstd213"[study] AND "copy number gain"[variant_type] |
copy number loss | 2276 | nssv17683354 | "nstd213"[study] AND "copy number loss"[variant_type] | ||
deletion | 252 | nssv17683408 | "nstd213"[study] AND "deletion"[variant_type] | ||
duplication | 161 | nssv17683404 | "nstd213"[study] AND "duplication"[variant_type] | ||
inversion | 84 | inversion | 84 | nssv17683401 | "nstd213"[study] AND "inversion"[variant_type] |
translocation | 372 | interchromosomal translocation | 112 | nssv17683389 | "nstd213"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 260 | nssv17683376 | "nstd213"[study] AND "intrachromosomal translocation"[variant_type] | ||
Total | 5864 | 5936 |
nstd214
Study Page: nstd214 (Naslavsky et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 70496 | deletion | 70496 | nssv17955464 | "nstd214"[study] AND "deletion"[variant_type] |
insertion | 19323 | insertion | 24733 | nssv17955461 | "nstd214"[study] AND "insertion"[variant_type] |
Total | 89819 | 95229 |
nstd215
Study Page: nstd215 (Prakrithi et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
mobile element insertion | 21981 | alu insertion | 21981 | nssv17860230 | "nstd215"[study] AND "alu insertion"[variant_type] |
Total | 21981 | 21981 |
nstd217
Study Page: nstd217 (Zhang et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
sequence alteration | 1 | sequence alteration | 1 | nssv17955694 | "nstd217"[study] AND "sequence alteration"[variant_type] |
Total | 1 | 1 |
nstd218
Study Page: nstd218 (Wijesiriwardhana et al. 2021).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 103 | copy number gain | 70 | nssv17955798 | "nstd218"[study] AND "copy number gain"[variant_type] |
copy number loss | 35 | nssv17955799 | "nstd218"[study] AND "copy number loss"[variant_type] | ||
Total | 103 | 105 |
nstd219
Study Page: nstd219 (Bao et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | deletion | 1 | nssv17956058 | "nstd219"[study] AND "deletion"[variant_type] |
Total | 1 | 1 |
nstd220
Study Page: nstd220 (Chen et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 17 | copy number gain | 5 | nssv17976216 | "nstd220"[study] AND "copy number gain"[variant_type] |
copy number loss | 12 | nssv17976218 | "nstd220"[study] AND "copy number loss"[variant_type] | ||
Total | 17 | 17 |
nstd221
Study Page: nstd221 (Bao et al. 2022b).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 3 | deletion | 3 | nssv17976489 | "nstd221"[study] AND "deletion"[variant_type] |
delins | 1 | delins | 1 | nssv17976490 | "nstd221"[study] AND "delins"[variant_type] |
Total | 4 | 4 |
nstd222
Study Page: nstd222 (Bzdega et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv17977124 | "nstd222"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd223
Study Page: nstd223 (Sedlazeck et al. 2020).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 248479 | deletion | 204432 | nssv18197113 | "nstd223"[study] AND "deletion"[variant_type] |
duplication | 44060 | nssv18237122 | "nstd223"[study] AND "duplication"[variant_type] | ||
inversion | 56003 | inversion | 56003 | nssv18281619 | "nstd223"[study] AND "inversion"[variant_type] |
Total | 304482 | 304495 |
nstd224
Study Page: nstd224 (Zarrei et al. 2023).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 14225 | copy number variation | 2 | nssv18292999 | "nstd224"[study] AND "copy number variation"[variant_type] |
deletion | 22406 | nssv18326289 | "nstd224"[study] AND "deletion"[variant_type] | ||
duplication | 22263 | nssv18326290 | "nstd224"[study] AND "duplication"[variant_type] | ||
Total | 14225 | 44671 |
nstd225
Study Page: nstd225 (Xiao et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv18326478 | "nstd225"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd226
Study Page: nstd226 (Mei et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv18326479 | "nstd226"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd227
Study Page: nstd227 (Kikas et al. 2023).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1242 | deletion | 1304 | nssv18328825 | "nstd227"[study] AND "deletion"[variant_type] |
duplication | 765 | nssv18328802 | "nstd227"[study] AND "duplication"[variant_type] | ||
Total | 1242 | 2069 |
nstd228
Study Page: nstd228 (Fan et al. 2022).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2 | copy number gain | 1 | nssv18786565 | "nstd228"[study] AND "copy number gain"[variant_type] |
copy number loss | 1 | nssv18786564 | "nstd228"[study] AND "copy number loss"[variant_type] | ||
Total | 2 | 2 |
nstd229
Study Page: nstd229 (Jun et al. 2023).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 336775 | deletion | 241518 | nssv18590982 | "nstd229"[study] AND "deletion"[variant_type] |
duplication | 95259 | nssv18750990 | "nstd229"[study] AND "duplication"[variant_type] | ||
inversion | 39521 | inversion | 39521 | nssv18785947 | "nstd229"[study] AND "inversion"[variant_type] |
Total | 376296 | 376298 |
nstd230
Study Page: nstd230 (Sugimoto et al. 2023).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex chromosomal rearrangement | 14 | interchromosomal translocation | 86 | nssv18792541 | "nstd230"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 98 | nssv18792540 | "nstd230"[study] AND "intrachromosomal translocation"[variant_type] | ||
Total | 14 | 184 |
nstd231
Study Page: nstd231 (Ali et al. 2023).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 133 | copy number gain | 2 | nssv18793017 | "nstd231"[study] AND "copy number gain"[variant_type] |
deletion | 22 | nssv18793037 | "nstd231"[study] AND "deletion"[variant_type] | ||
duplication | 122 | nssv18793039 | "nstd231"[study] AND "duplication"[variant_type] | ||
Total | 133 | 146 |
nstd233
Study Page: nstd233 (Bzdega et al. 2023).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | copy number loss | 1 | nssv18830931 | "nstd233"[study] AND "copy number loss"[variant_type] |
Total | 1 | 1 |
nstd234
Study Page: nstd234 (Malhotra et al. 2023).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
inversion | 1 | inversion | 1 | nssv18830932 | "nstd234"[study] AND "inversion"[variant_type] |
Total | 1 | 1 |
estd1
Study Page: estd1 (Redon et al. 2006).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 3340 | copy number gain | 13942 | essv9998 | "estd1"[study] AND "copy number gain"[variant_type] |
copy number loss | 11518 | essv9999 | "estd1"[study] AND "copy number loss"[variant_type] | ||
Total | 3340 | 25193 |
estd3
Study Page: estd3 (Wang et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 2637 | complex substitution | 191 | essv27860 | "estd3"[study] AND "complex substitution"[variant_type] |
copy number loss | 2446 | essv27875 | "estd3"[study] AND "copy number loss"[variant_type] | ||
inversion | 16 | inversion | 16 | essv27765 | "estd3"[study] AND "inversion"[variant_type] |
sequence alteration | 29 | sequence alteration | 29 | essv27822 | "estd3"[study] AND "sequence alteration"[variant_type] |
Total | 2682 | 2682 |
estd19
Study Page: estd19 (Ahn et al. 2009).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 3883 | copy number gain | 963 | essv32171 | "estd19"[study] AND "copy number gain"[variant_type] |
copy number loss | 2920 | essv32173 | "estd19"[study] AND "copy number loss"[variant_type] | ||
inversion | 415 | inversion | 415 | essv32166 | "estd19"[study] AND "inversion"[variant_type] |
Total | 4298 | 4298 |
estd20
Study Page: estd20 (Conrad et al. 2009).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 11700 | copy number gain | 26124 | essv84153 | "estd20"[study] AND "copy number gain"[variant_type] |
copy number loss | 25857 | essv84154 | "estd20"[study] AND "copy number loss"[variant_type] | ||
Total | 20206 | 51981 |
estd21
Study Page: estd21 (Wheeler et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 23 | copy number gain | 9 | essv84200 | "estd21"[study] AND "copy number gain"[variant_type] |
copy number loss | 14 | essv84198 | "estd21"[study] AND "copy number loss"[variant_type] | ||
Total | 23 | 23 |
estd22
Study Page: estd22 (Levy et al. 2007).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 376653 | copy number gain | 19 | essv84245 | "estd22"[study] AND "copy number gain"[variant_type] |
copy number loss | 26 | essv84244 | "estd22"[study] AND "copy number loss"[variant_type] | ||
deletion | 376608 | essv4367655 | "estd22"[study] AND "deletion"[variant_type] | ||
insertion | 403615 | insertion | 403615 | essv4367659 | "estd22"[study] AND "insertion"[variant_type] |
inversion | 90 | inversion | 90 | essv4361689 | "estd22"[study] AND "inversion"[variant_type] |
Total | 780358 | 780358 |
estd24
Study Page: estd24 (de Smith et al. 2007).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1773 | copy number gain | 4369 | essv99997 | "estd24"[study] AND "copy number gain"[variant_type] |
copy number loss | 4913 | essv99999 | "estd24"[study] AND "copy number loss"[variant_type] | ||
Total | 1773 | 9282 |
estd48
Study Page: estd48 (Stefansson et al. 2005).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
inversion | 1 | inversion | 1 | essv7033422 | "estd48"[study] AND "inversion"[variant_type] |
Total | 1 | 1 |
estd49
Study Page: estd49 (Gusev et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 225 | copy number loss | 225 | essv6990737 | "estd49"[study] AND "copy number loss"[variant_type] |
Total | 225 | 225 |
estd50
Study Page: estd50 (Giglio et al. 2002).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
inversion | 2 | inversion | 4 | essv7571845 | "estd50"[study] AND "inversion"[variant_type] |
Total | 2 | 4 |
estd55
Study Page: estd55 (Pinto et al. 2007).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 6862 | copy number gain | 8003 | essv6990524 | "estd55"[study] AND "copy number gain"[variant_type] |
copy number loss | 4580 | essv6990176 | "estd55"[study] AND "copy number loss"[variant_type] | ||
Total | 6862 | 12583 |
estd59
Study Page: estd59 (1000 Genomes Project Consortium et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 206192 | deletion | 1952690 | essv9729888 | "estd59"[study] AND "deletion"[variant_type] |
duplication | 11020 | essv8809655 | "estd59"[study] AND "duplication"[variant_type] | ||
insertion | 14346 | insertion | 94504 | essv9682247 | "estd59"[study] AND "insertion"[variant_type] |
inversion | 191 | inversion | 191 | essv8809650 | "estd59"[study] AND "inversion"[variant_type] |
mobile element insertion | 7306 | mobile element insertion | 91852 | essv7843378 | "estd59"[study] AND "mobile element insertion"[variant_type] |
novel sequence insertion | 173 | novel sequence insertion | 223 | essv7843646 | "estd59"[study] AND "novel sequence insertion"[variant_type] |
tandem duplication | 663 | tandem duplication | 7531 | essv7739279 | "estd59"[study] AND "tandem duplication"[variant_type] |
Total | 228871 | 2158011 |
estd176
Study Page: estd176 (Banerjee et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 3 | complex substitution | 4 | essv2585969 | "estd176"[study] AND "complex substitution"[variant_type] |
copy number variation | 731 | copy number gain | 346 | essv2586183 | "estd176"[study] AND "copy number gain"[variant_type] |
copy number loss | 731 | essv2586188 | "estd176"[study] AND "copy number loss"[variant_type] | ||
Total | 734 | 1081 |
estd180
Study Page: estd180 (Pang et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 14491 | copy number gain | 624 | essv3587338 | "estd180"[study] AND "copy number gain"[variant_type] |
copy number loss | 714 | essv3587336 | "estd180"[study] AND "copy number loss"[variant_type] | ||
deletion | 13153 | essv3586000 | "estd180"[study] AND "deletion"[variant_type] | ||
insertion | 9291 | insertion | 9291 | essv3585997 | "estd180"[study] AND "insertion"[variant_type] |
inversion | 105 | inversion | 105 | essv3565824 | "estd180"[study] AND "inversion"[variant_type] |
Total | 23887 | 23887 |
estd186
Study Page: estd186 (Thevenon et al. 2012).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 3 | copy number gain | 1 | essv4367669 | "estd186"[study] AND "copy number gain"[variant_type] |
copy number loss | 2 | essv4367668 | "estd186"[study] AND "copy number loss"[variant_type] | ||
Total | 3 | 3 |
estd188
Study Page: estd188 (Pinto et al. 2011).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 60247 | copy number gain | 16830 | essv4427906 | "estd188"[study] AND "copy number gain"[variant_type] |
copy number loss | 43417 | essv4427916 | "estd188"[study] AND "copy number loss"[variant_type] | ||
Total | 60247 | 60247 |
estd192
Study Page: estd192 (Forbes et al. 2008).
estd193
Study Page: estd193 (Feuk et al. 2005).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
inversion | 3 | inversion | 3 | essv4491061 | "estd193"[study] AND "inversion"[variant_type] |
Total | 3 | 3 |
estd194
Study Page: estd194 (Bentley et al. 2008).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 282411 | deletion | 282411 | essv5001893 | "estd194"[study] AND "deletion"[variant_type] |
insertion | 222501 | insertion | 222501 | essv5001891 | "estd194"[study] AND "insertion"[variant_type] |
Total | 504912 | 504912 |
estd195
Study Page: estd195 (International HapMap 3 Consortium et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 43 | deletion | 10104 | essv5161217 | "estd195"[study] AND "deletion"[variant_type] |
duplication | 6054 | essv5161201 | "estd195"[study] AND "duplication"[variant_type] | ||
copy number variation | 813 | deletion | 133355 | essv5161230 | "estd195"[study] AND "deletion"[variant_type] |
duplication | 9824 | essv5161193 | "estd195"[study] AND "duplication"[variant_type] | ||
Total | 856 | 159337 |
estd196
Study Page: estd196 (Simon-Sanchez et al. 2006).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 335 | deletion | 125 | essv5161565 | "estd196"[study] AND "deletion"[variant_type] |
duplication | 210 | essv5161561 | "estd196"[study] AND "duplication"[variant_type] | ||
Total | 335 | 335 |
estd197
Study Page: estd197 (McKernan et al. 2009).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 130732 | copy number gain | 78 | essv5394127 | "estd197"[study] AND "copy number gain"[variant_type] |
copy number loss | 487 | essv5392997 | "estd197"[study] AND "copy number loss"[variant_type] | ||
deletion | 130167 | essv5394337 | "estd197"[study] AND "deletion"[variant_type] | ||
insertion | 101952 | insertion | 101952 | essv5394340 | "estd197"[study] AND "insertion"[variant_type] |
inversion | 91 | inversion | 91 | essv5394106 | "estd197"[study] AND "inversion"[variant_type] |
Total | 232775 | 232775 |
estd198
Study Page: estd198 (Chia et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 381 | copy number gain | 9 | essv5395537 | "estd198"[study] AND "copy number gain"[variant_type] |
copy number loss | 390 | essv5395538 | "estd198"[study] AND "copy number loss"[variant_type] | ||
Total | 381 | 399 |
estd199
Study Page: estd199 (1000 Genomes Project Consortium et al. 2012).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 22531 | deletion | 1202929 | essv6598470 | "estd199"[study] AND "deletion"[variant_type] |
Total | 22531 | 1202929 |
estd201
Study Page: estd201 (Wong et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 36558 | deletion | 526905 | essv6977926 | "estd201"[study] AND "deletion"[variant_type] |
Total | 36558 | 312665 |
estd203
Study Page: estd203 (Vogler et al. 2010).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 4192 | copy number gain | 7984 | essv7033400 | "estd203"[study] AND "copy number gain"[variant_type] |
copy number loss | 34685 | essv7033410 | "estd203"[study] AND "copy number loss"[variant_type] | ||
Total | 4192 | 42669 |
estd206
Study Page: estd206 (Nagirnaja et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 513 | copy number gain | 289 | essv7099909 | "estd206"[study] AND "copy number gain"[variant_type] |
copy number loss | 626 | essv7099915 | "estd206"[study] AND "copy number loss"[variant_type] | ||
Total | 513 | 915 |
estd208
Study Page: estd208 (Helbig et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 81 | deletion | 39 | essv7100009 | "estd208"[study] AND "deletion"[variant_type] |
duplication | 49 | essv7100011 | "estd208"[study] AND "duplication"[variant_type] | ||
Total | 81 | 88 |
estd209
Study Page: estd209 (Pang et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 230969 | deletion | 230782 | essv7571728 | "estd209"[study] AND "deletion"[variant_type] |
duplication | 187 | essv7568506 | "estd209"[study] AND "duplication"[variant_type] | ||
insertion | 240848 | insertion | 240848 | essv7571838 | "estd209"[study] AND "insertion"[variant_type] |
Total | 471817 | 471817 |
estd210
Study Page: estd210 (Blake et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1 | deletion | 1 | essv26058945 | "estd210"[study] AND "deletion"[variant_type] |
inversion | 2 | inversion | 2 | essv26058944 | "estd210"[study] AND "inversion"[variant_type] |
translocation | 1 | interchromosomal translocation | 1 | essv26058942 | "estd210"[study] AND "interchromosomal translocation"[variant_type] |
Total | 4 | 4 |
estd211
Study Page: estd211 (Campbell et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 100 | deletion | 100 | essv9766641 | "estd211"[study] AND "deletion"[variant_type] |
Total | 100 | 100 |
estd212
Study Page: estd212 (Uddin et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 16575 | copy number gain | 14736 | essv9837747 | "estd212"[study] AND "copy number gain"[variant_type] |
copy number loss | 56442 | essv9837819 | "estd212"[study] AND "copy number loss"[variant_type] | ||
Total | 16575 | 71178 |
estd213
Study Page: estd213 (Mokhtar et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 497 | copy number gain | 334 | essv9838930 | "estd213"[study] AND "copy number gain"[variant_type] |
copy number loss | 777 | essv9838932 | "estd213"[study] AND "copy number loss"[variant_type] | ||
Total | 497 | 1111 |
estd214
Study Page: estd214 (1000 Genomes Project Consortium et al. 2015).
estd215
Study Page: estd215 (Boomsma et al. 2013).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 28083 | deletion | 28083 | essv9766504 | "estd215"[study] AND "deletion"[variant_type] |
Total | 28083 | 28083 |
estd216
Study Page: estd216 (Kasak et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 879 | deletion | 630 | essv16463298 | "estd216"[study] AND "deletion"[variant_type] |
duplication | 249 | essv16463300 | "estd216"[study] AND "duplication"[variant_type] | ||
Total | 879 | 879 |
estd217
Study Page: estd217 (Besenbacher et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 3826 | complex substitution | 3826 | essv16503432 | "estd217"[study] AND "complex substitution"[variant_type] |
copy number variation | 11340 | deletion | 11340 | essv16503442 | "estd217"[study] AND "deletion"[variant_type] |
insertion | 18349 | insertion | 18349 | essv16489432 | "estd217"[study] AND "insertion"[variant_type] |
inversion | 26 | inversion | 26 | essv16489461 | "estd217"[study] AND "inversion"[variant_type] |
novel sequence insertion | 3662 | novel sequence insertion | 3662 | essv16493530 | "estd217"[study] AND "novel sequence insertion"[variant_type] |
sequence alteration | 2938 | sequence alteration | 2938 | essv16496795 | "estd217"[study] AND "sequence alteration"[variant_type] |
Total | 40141 | 40141 |
estd218
Study Page: estd218 (Simpson et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 5513 | copy number gain | 1491 | essv26051856 | "estd218"[study] AND "copy number gain"[variant_type] |
copy number loss | 4022 | essv26051858 | "estd218"[study] AND "copy number loss"[variant_type] | ||
Total | 5513 | 5513 |
estd219
Study Page: estd219 (1000 Genomes Consortium Phase 3 Integrated SV).
estd220
Study Page: estd220 (Pettigrew et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 3620 | deletion | 403 | essv16507027 | "estd220"[study] AND "deletion"[variant_type] |
duplication | 3217 | essv16507026 | "estd220"[study] AND "duplication"[variant_type] | ||
Total | 3620 | 3585 |
estd221
Study Page: estd221 (Palta et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 699 | copy number gain | 393 | essv16509331 | "estd221"[study] AND "copy number gain"[variant_type] |
copy number loss | 1920 | essv16509340 | "estd221"[study] AND "copy number loss"[variant_type] | ||
Total | 699 | 2313 |
estd222
Study Page: estd222 (Franke et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex substitution | 2 | complex substitution | 35508 | essv25893569 | "estd222"[study] AND "complex substitution"[variant_type] |
Total | 2 | 35508 |
estd224
Study Page: estd224 (Suktitipat et al. 2014).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 3576 | copy number gain | 4879 | essv25793177 | "estd224"[study] AND "copy number gain"[variant_type] |
copy number loss | 18579 | essv25801679 | "estd224"[study] AND "copy number loss"[variant_type] | ||
Total | 3576 | 23458 |
estd225
Study Page: estd225 (Magnusson et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1249 | copy number gain | 732 | essv25822538 | "estd225"[study] AND "copy number gain"[variant_type] |
copy number loss | 1185 | essv25822535 | "estd225"[study] AND "copy number loss"[variant_type] | ||
Total | 1249 | 1917 |
estd226
Study Page: estd226 (Zlotina et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 4 | copy number gain | 1 | essv26046344 | "estd226"[study] AND "copy number gain"[variant_type] |
copy number loss | 3 | essv26046345 | "estd226"[study] AND "copy number loss"[variant_type] | ||
Total | 4 | 4 |
estd228
Study Page: estd228 (Ansari et al. 2016).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
Total | 12 | 12 |
estd229
Study Page: estd229 (Fakhro et al. 2015).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 16676 | deletion | 56972 | essv26046330 | "estd229"[study] AND "deletion"[variant_type] |
duplication | 95757 | essv26046320 | "estd229"[study] AND "duplication"[variant_type] | ||
Total | 16676 | 152729 |
estd231
Study Page: estd231 (Wong et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 6665 | deletion | 5545 | essv26066024 | "estd231"[study] AND "deletion"[variant_type] |
duplication | 1120 | essv26065257 | "estd231"[study] AND "duplication"[variant_type] | ||
inversion | 398 | inversion | 398 | essv26065700 | "estd231"[study] AND "inversion"[variant_type] |
Total | 7063 | 7063 |
estd232
Study Page: estd232 (Blanco-Kelly et al. 2017).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
Total | 8 | 8 |
estd233
Study Page: estd233 (Luo et al. 2017b).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
copy number variation | 1026 | copy number gain | 925 | essv26067087 | "estd233"[study] AND "copy number gain"[variant_type] |
copy number loss | 101 | essv26067074 | "estd233"[study] AND "copy number loss"[variant_type] | ||
Total | 1026 | 1026 |
estd236
Study Page: estd236 (Kurtas et al. 2018).
Region Type | Region count | Call Type | Call count | Example Variant Call | Query |
---|---|---|---|---|---|
complex chromosomal rearrangement | 6 | interchromosomal translocation | 14 | essv26067136 | "estd236"[study] AND "interchromosomal translocation"[variant_type] |
intrachromosomal translocation | 10 | essv26067133 | "estd236"[study] AND "intrachromosomal translocation"[variant_type] | ||
inversion | 1 | essv26067109 | "estd236"[study] AND "inversion"[variant_type] | ||
copy number variation | 1 | copy number loss | 1 | essv26067121 | "estd236"[study] AND "copy number loss"[variant_type] |
Total | 7 | 36 |