nsv7216
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:96,077
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048033600_H1'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048043700_J4'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000926722_G5'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048903300_N7'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048905300_C12'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048905300_I14'
- TRACE: TEMPLATE_ID='165807_ABC8_000005710049_J10'
- TRACE: TEMPLATE_ID='166910_ABC8_000043204000_D7'
- TRACE: TEMPLATE_ID='167000_ABC8_000000726540_E11'
- TRACE: TEMPLATE_ID='167000_ABC8_000002617740_I22'
- TRACE: TEMPLATE_ID='167098_ABC8_000040856500_K21'
- TRACE: TEMPLATE_ID='167098_ABC8_000040859800_L14'
- TRACE: TEMPLATE_ID='167098_ABC8_000040911200_K3'
- TRACE: TEMPLATE_ID='167098_ABC8_000040968400_K24'
- TRACE: TEMPLATE_ID='167098_ABC8_000041029600_L1'
- TRACE: TEMPLATE_ID='170215_ABC9_000043896300_B18'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043911000_L14'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000045488900_M11'
- TRACE: TEMPLATE_ID='174779_ABC12_000046735500_K4'
- TRACE: TEMPLATE_ID='174779_ABC12_000046879900_J14'
- TRACE: TEMPLATE_ID='G248P802762E1'
- TRACE: TEMPLATE_ID='G248P88208D11'
- TRACE: TEMPLATE_ID='G248P88798A1'
- Overlapping Genes
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: 899 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 522 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 897 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7216 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,674,725 | 49,770,801 |
| nsv7216 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 138,903 | 234,950 |
| nsv7216 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 49,696,277 | 49,792,353 |
| nsv7216 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 49,652,853 | 49,748,929 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv9820 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv3949 | inversion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv9821 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv10817 | inversion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv5356 | inversion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv10892 | inversion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
| nssv1936 | inversion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv9820 | Remapped | Pass | NW_019805495.1:g.( 138903_?)_(179145_ ?)inv | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 138,903 | - | 179,145 | - |
| nssv3949 | Remapped | Pass | NW_019805495.1:g.( 144915_?)_(179145_ ?)inv | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 144,915 | - | 179,145 | - |
| nssv9821 | Remapped | Good | NW_019805495.1:g.( 178739_?)_(?_23495 0)inv | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 178,739 | - | - | 234,950 |
| nssv10817 | Remapped | Pass | NW_019805495.1:g.( ?_192346)_(?_22710 1)inv | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | - | 192,346 | - | 227,101 |
| nssv5356 | Remapped | Pass | NW_019805495.1:g.( ?_192346)_(?_22838 1)inv | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | - | 192,346 | - | 228,381 |
| nssv10892 | Remapped | Pass | NW_019805495.1:g.( ?_192346)_(?_22917 5)inv | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | - | 192,346 | - | 229,175 |
| nssv1936 | Remapped | Pass | NW_019805495.1:g.( ?_192346)_(?_22969 1)inv | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | - | 192,346 | - | 229,691 |
| nssv9820 | Remapped | Perfect | NC_000011.10:g.(49 674725_?)_(?_49724 010)inv | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,674,725 | - | - | 49,724,010 |
| nssv3949 | Remapped | Perfect | NC_000011.10:g.(49 680735_?)_(?_49722 175)inv | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,680,735 | - | - | 49,722,175 |
| nssv9821 | Remapped | Perfect | NC_000011.10:g.(49 714594_?)_(?_49770 801)inv | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,714,594 | - | - | 49,770,801 |
| nssv5356 | Remapped | Perfect | NC_000011.10:g.(49 715132_?)_(?_49764 232)inv | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,715,132 | - | - | 49,764,232 |
| nssv10892 | Remapped | Perfect | NC_000011.10:g.(49 717311_?)_(?_49765 026)inv | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,717,311 | - | - | 49,765,026 |
| nssv1936 | Remapped | Perfect | NC_000011.10:g.(49 718863_?)_(?_49765 542)inv | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,718,863 | - | - | 49,765,542 |
| nssv10817 | Remapped | Perfect | NC_000011.10:g.(49 720314_?)_(?_49762 952)inv | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,720,314 | - | - | 49,762,952 |
| nssv9820 | Remapped | Perfect | NC_000011.9:g.(496 96277_?)_(?_497455 62)inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,696,277 | - | - | 49,745,562 |
| nssv3949 | Remapped | Perfect | NC_000011.9:g.(497 02287_?)_(?_497437 27)inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,702,287 | - | - | 49,743,727 |
| nssv9821 | Remapped | Perfect | NC_000011.9:g.(497 36146_?)_(?_497923 53)inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,146 | - | - | 49,792,353 |
| nssv5356 | Remapped | Perfect | NC_000011.9:g.(497 36684_?)_(?_497857 84)inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,736,684 | - | - | 49,785,784 |
| nssv10892 | Remapped | Perfect | NC_000011.9:g.(497 38863_?)_(?_497865 78)inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,738,863 | - | - | 49,786,578 |
| nssv1936 | Remapped | Perfect | NC_000011.9:g.(497 40415_?)_(?_497870 94)inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,740,415 | - | - | 49,787,094 |
| nssv10817 | Remapped | Perfect | NC_000011.9:g.(497 41866_?)_(?_497845 04)inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,741,866 | - | - | 49,784,504 |
| nssv9820 | Submitted genomic | NC_000011.8:g.(496 52853_?)_(?_497021 38)inv | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,652,853 | - | - | 49,702,138 | ||
| nssv3949 | Submitted genomic | NC_000011.8:g.(496 58863_?)_(?_497003 03)inv | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,658,863 | - | - | 49,700,303 | ||
| nssv9821 | Submitted genomic | NC_000011.8:g.(496 92722_?)_(?_497489 29)inv | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,692,722 | - | - | 49,748,929 | ||
| nssv5356 | Submitted genomic | NC_000011.8:g.(496 93260_?)_(?_497423 60)inv | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,693,260 | - | - | 49,742,360 | ||
| nssv10892 | Submitted genomic | NC_000011.8:g.(496 95439_?)_(?_497431 54)inv | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,695,439 | - | - | 49,743,154 | ||
| nssv1936 | Submitted genomic | NC_000011.8:g.(496 96991_?)_(?_497436 70)inv | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,696,991 | - | - | 49,743,670 | ||
| nssv10817 | Submitted genomic | NC_000011.8:g.(496 98442_?)_(?_497410 80)inv | NCBI35 (hg17) | NC_000011.8 | Chr11 | 49,698,442 | - | - | 49,741,080 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1936 | 3 | NA18555 | Multiple complete digestion | MCD analysis | Pass |