nsv906404
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,995
- Publication(s):Xu et al. 2011
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: 2101 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 2101 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1403 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv906404 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nsv906404 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nsv906404 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1520477 | copy number loss | SP51087 | SNP array | SNP genotyping analysis | 9 |
| nssv1520597 | copy number loss | SP51172 | SNP array | SNP genotyping analysis | 8 |
| nssv1520639 | copy number loss | SP51188 | SNP array | SNP genotyping analysis | 12 |
| nssv1520682 | copy number loss | SP51218 | SNP array | SNP genotyping analysis | 14 |
| nssv1520811 | copy number loss | SP51259 | SNP array | SNP genotyping analysis | 15 |
| nssv1523133 | copy number loss | SP53700 | SNP array | SNP genotyping analysis | 9 |
| nssv1528495 | copy number loss | SP81254 | SNP array | SNP genotyping analysis | 6 |
| nssv1528715 | copy number loss | SP81352 | SNP array | SNP genotyping analysis | 18 |
| nssv1529736 | copy number gain | MS10119 | SNP array | SNP genotyping analysis | 12 |
| nssv1530214 | copy number loss | MS10249 | SNP array | SNP genotyping analysis | 10 |
| nssv1531439 | copy number loss | MS10444 | SNP array | SNP genotyping analysis | 16 |
| nssv1536705 | copy number loss | MS12917 | SNP array | SNP genotyping analysis | 13 |
| nssv1539415 | copy number loss | MS14324 | SNP array | SNP genotyping analysis | 15 |
| nssv1539813 | copy number gain | MS14512 | SNP array | SNP genotyping analysis | 10 |
| nssv1540114 | copy number loss | MS14696 | SNP array | SNP genotyping analysis | 11 |
| nssv1543314 | copy number loss | MS16137 | SNP array | SNP genotyping analysis | 14 |
| nssv1543962 | copy number loss | MS16188 | SNP array | SNP genotyping analysis | 15 |
| nssv1550990 | copy number loss | MS18715 | SNP array | SNP genotyping analysis | 13 |
| nssv1561353 | copy number gain | MS24940 | SNP array | SNP genotyping analysis | 14 |
| nssv1563039 | copy number loss | MS25833 | SNP array | SNP genotyping analysis | 12 |
| nssv1598419 | copy number loss | IS40849 | SNP array | SNP genotyping analysis | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1520477 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1520597 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1520639 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1520682 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1520811 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1523133 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1528495 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1528715 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1529736 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1530214 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1531439 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1536705 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1539415 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1539813 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1540114 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1543314 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1543962 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1550990 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1561353 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1563039 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1598419 | Remapped | Perfect | NC_000016.10:g.(32 550536_32551371)_( 32559518_32562530) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,550,536 | 32,551,371 | 32,559,518 | 32,562,530 |
| nssv1520477 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1520597 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1520639 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1520682 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1520811 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1523133 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1528495 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1528715 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1529736 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1530214 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1531439 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1536705 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1539415 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1539813 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1540114 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1543314 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1543962 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1550990 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1561353 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1563039 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1598419 | Remapped | Perfect | NC_000016.9:g.(325 61857_32562692)_(3 2570839_32573851)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,561,857 | 32,562,692 | 32,570,839 | 32,573,851 |
| nssv1520477 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1520597 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1520639 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1520682 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1520811 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1523133 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1528495 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1528715 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1529736 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1530214 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1531439 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1536705 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1539415 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1539813 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1540114 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1543314 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1543962 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1550990 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1561353 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1563039 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 | ||
| nssv1598419 | Submitted genomic | NC_000016.8:g.(324 69358_32470193)_(3 2478340_32481352)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,469,358 | 32,470,193 | 32,478,340 | 32,481,352 |