nsv932760
- Organism: Homo sapiens
- Study:nstd79 (Dittwald et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,451,481
- Publication(s):Dittwald et al. 2013
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8184 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 8067 SVs from 129 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv932760 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 74,728,174 | 74,728,174 | 77,179,654 | 77,179,654 |
| nsv932760 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 74,142,512 | 75,167,184 | 76,063,178 | 76,808,971 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv1610687 | duplication | 677 | Oligo aCGH | Probe signal intensity |
| nssv1610831 | deletion | 697 | Oligo aCGH | Probe signal intensity |
| nssv1610780 | duplication | 2006 | Oligo aCGH | Probe signal intensity |
| nssv1611535 | duplication | 1687 | Oligo aCGH | Probe signal intensity |
| nssv1612098 | deletion | 1156 | Oligo aCGH | Probe signal intensity |
| nssv1612501 | deletion | 1077 | Oligo aCGH | Probe signal intensity |
| nssv1610643 | deletion | 1898 | Oligo aCGH | Probe signal intensity |
| nssv1611887 | deletion | 1403 | Oligo aCGH | Probe signal intensity |
| nssv1612337 | duplication | 978 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1610687 | Remapped | Pass | NC_000007.14:g.(?_ 73027102)_(7506487 8_?)dupNC_000007.1 4:g.(?_73096542)_( 75022481_?)dupNC_0 00007.14:g.(750708 28_75070828)_(7719 4350_77194350)dup | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | - | 73,027,102 | 75,064,878 | - |
| nssv1610831 | Remapped | Pass | NC_000007.14:g.(?_ 73027102)_(7506487 8_?)delNC_000007.1 4:g.(?_73096542)_( 75022481_?)delNC_0 00007.14:g.(750708 28_75070828)_(7719 4350_77194350)del | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | - | 73,027,102 | 75,064,878 | - |
| nssv1610687 | Remapped | Pass | NC_000007.14:g.(?_ 73027102)_(7506487 8_?)dupNC_000007.1 4:g.(?_73096542)_( 75022481_?)dupNC_0 00007.14:g.(750708 28_75070828)_(7719 4350_77194350)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | - | 73,096,542 | 75,022,481 | - |
| nssv1610780 | Remapped | Good | NC_000007.14:g.(?_ 73096542)_(7502248 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | - | 73,096,542 | 75,022,481 | - |
| nssv1610831 | Remapped | Pass | NC_000007.14:g.(?_ 73027102)_(7506487 8_?)delNC_000007.1 4:g.(?_73096542)_( 75022481_?)delNC_0 00007.14:g.(750708 28_75070828)_(7719 4350_77194350)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | - | 73,096,542 | 75,022,481 | - |
| nssv1611535 | Remapped | Pass | NC_000007.14:g.(74 719000_74719000)_( 77194352_77194352) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 74,719,000 | 74,719,000 | 77,194,352 | 77,194,352 |
| nssv1610687 | Remapped | Pass | NC_000007.14:g.(?_ 73027102)_(7506487 8_?)dupNC_000007.1 4:g.(?_73096542)_( 75022481_?)dupNC_0 00007.14:g.(750708 28_75070828)_(7719 4350_77194350)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,070,828 | 75,070,828 | 77,194,350 | 77,194,350 |
| nssv1610831 | Remapped | Pass | NC_000007.14:g.(?_ 73027102)_(7506487 8_?)delNC_000007.1 4:g.(?_73096542)_( 75022481_?)delNC_0 00007.14:g.(750708 28_75070828)_(7719 4350_77194350)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,070,828 | 75,070,828 | 77,194,350 | 77,194,350 |
| nssv1612098 | Remapped | Good | NC_000007.14:g.(75 432815_75432815)_( 76248219_76248219) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,432,815 | 75,432,815 | 76,248,219 | 76,248,219 |
| nssv1612501 | Remapped | Good | NC_000007.14:g.(75 432815_75432815)_( 76248219_76248219) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,432,815 | 75,432,815 | 76,248,219 | 76,248,219 |
| nssv1610643 | Remapped | Good | NC_000007.14:g.(75 432815_75432815)_( 76304303_76304303) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,432,815 | 75,432,815 | 76,304,303 | 76,304,303 |
| nssv1611887 | Remapped | Good | NC_000007.14:g.(75 432815_75432815)_( 77194350_77194350) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,432,815 | 75,432,815 | 77,194,350 | 77,194,350 |
| nssv1612337 | Remapped | Good | NC_000007.14:g.(75 432815_75432815)_( 77194350_77194350) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 75,432,815 | 75,432,815 | 77,194,350 | 77,194,350 |
| nssv1611887 | Remapped | Pass | NW_003871064.1:g.( 569552_2962051)_(3 117490_?)del | GRCh37.p13 | Second Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 569,552 | 2,962,051 | 3,117,490 | - |
| nssv1612337 | Remapped | Pass | NW_003871064.1:g.( 569552_2962051)_(3 117490_?)dup | GRCh37.p13 | Second Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 569,552 | 2,962,051 | 3,117,490 | - |
| nssv1610780 | Remapped | Pass | NW_003871064.1:g.( 2102077_2102077)_( 3599399_3599399)du p | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,102,077 | 2,102,077 | 3,599,399 | 3,599,399 |
| nssv1612098 | Remapped | Pass | NW_003871064.1:g.( ?_3117491)_(359956 5_3777455)del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | - | 3,117,491 | 3,599,565 | 3,777,455 |
| nssv1612501 | Remapped | Pass | NW_003871064.1:g.( ?_3117491)_(359956 5_3777455)del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | - | 3,117,491 | 3,599,565 | 3,777,455 |
| nssv1610780 | Remapped | Pass | NC_000007.13:g.(?_ 73992744)_(7521757 2_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | - | 73,992,744 | 75,217,572 | - |
| nssv1610687 | Remapped | Pass | NC_000007.13:g.(74 486642_74486642)_( 76823667_76823667) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 74,486,642 | 74,486,642 | 76,823,667 | 76,823,667 |
| nssv1610831 | Remapped | Pass | NC_000007.13:g.(74 486642_74486642)_( 76823667_76823667) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 74,486,642 | 74,486,642 | 76,823,667 | 76,823,667 |
| nssv1611887 | Remapped | Perfect | NC_000007.13:g.(75 062091_75062091)_( 76823667_76823667) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 75,062,091 | 75,062,091 | 76,823,667 | 76,823,667 |
| nssv1612337 | Remapped | Perfect | NC_000007.13:g.(75 062091_75062091)_( 76823667_76823667) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 75,062,091 | 75,062,091 | 76,823,667 | 76,823,667 |
| nssv1612098 | Remapped | Pass | NC_000007.13:g.(?_ 75217573)_(7569964 7_75877537)del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | - | 75,217,573 | 75,699,647 | 75,877,537 |
| nssv1612501 | Remapped | Pass | NC_000007.13:g.(?_ 75217573)_(7569964 7_75877537)del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | - | 75,217,573 | 75,699,647 | 75,877,537 |
| nssv1611535 | Submitted genomic | NC_000007.13:g.(74 133319_74338985)_( 76030652_76823669) dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 74,133,319 | 74,338,985 | 76,030,652 | 76,823,669 | ||
| nssv1610643 | Submitted genomic | NC_000007.13:g.(75 062091_75165481)_( 75933289_75933620) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 75,062,091 | 75,165,481 | 75,933,289 | 75,933,620 | ||
| nssv1610780 | Submitted genomic | NC_000007.12:g.(73 625107_75058223)_( 75533763_75537417) dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 73,625,107 | 75,058,223 | 75,533,763 | 75,537,417 | ||
| nssv1610687 | Submitted genomic | NC_000007.12:g.(74 124578_75003415)_( 76078736_76661603) dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 74,124,578 | 75,003,415 | 76,078,736 | 76,661,603 | ||
| nssv1610831 | Submitted genomic | NC_000007.12:g.(74 124578_75003415)_( 76078736_76661603) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 74,124,578 | 75,003,415 | 76,078,736 | 76,661,603 | ||
| nssv1612098 | Submitted genomic | NC_000007.12:g.(74 900027_75003415)_( 75537583_75715473) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 74,900,027 | 75,003,415 | 75,537,583 | 75,715,473 | ||
| nssv1612501 | Submitted genomic | NC_000007.12:g.(74 900027_75003415)_( 75537583_75715473) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 74,900,027 | 75,003,415 | 75,537,583 | 75,715,473 | ||
| nssv1611887 | Submitted genomic | NC_000007.12:g.(74 900027_75003415)_( 75868588_76661603) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 74,900,027 | 75,003,415 | 75,868,588 | 76,661,603 | ||
| nssv1612337 | Submitted genomic | NC_000007.12:g.(74 900027_75003415)_( 75868588_76661603) dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 74,900,027 | 75,003,415 | 75,868,588 | 76,661,603 |