nsv428289
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:206,337
- Publication(s):Perry et al. 2008
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: 1745 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 1745 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 773 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv428289 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nsv428289 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nsv428289 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv452379 | copy number gain | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
| nssv452380 | copy number gain | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
| nssv452381 | copy number gain | HGDP00463 | BAC aCGH | Probe signal intensity | 90 |
| nssv452382 | copy number gain | HGDP00467 | BAC aCGH | Probe signal intensity | 75 |
| nssv452383 | copy number gain | HGDP00476 | BAC aCGH | Probe signal intensity | 69 |
| nssv452384 | copy number gain | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
| nssv452385 | copy number gain | HGDP00986 | BAC aCGH | Probe signal intensity | 82 |
| nssv452386 | copy number gain | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
| nssv452388 | copy number gain | HGDP01088 | BAC aCGH | Probe signal intensity | 78 |
| nssv452389 | copy number gain | HGDP01093 | BAC aCGH | Probe signal intensity | 95 |
| nssv452390 | copy number gain | HGDP01094 | BAC aCGH | Probe signal intensity | 92 |
| nssv452391 | copy number loss | NA18498 | BAC aCGH | Probe signal intensity | 97 |
| nssv452392 | copy number gain | NA18916 | BAC aCGH | Probe signal intensity | 90 |
| nssv452393 | copy number gain | NA19096 | BAC aCGH | Probe signal intensity | 100 |
| nssv452394 | copy number loss | NA19108 | BAC aCGH | Probe signal intensity | 84 |
| nssv452395 | copy number gain | NA19113 | BAC aCGH | Probe signal intensity | 122 |
| nssv452396 | copy number gain | NA19147 | BAC aCGH | Probe signal intensity | 75 |
| nssv452397 | copy number loss | NA19181 | BAC aCGH | Probe signal intensity | 87 |
| nssv452399 | copy number gain | NA19189 | BAC aCGH | Probe signal intensity | 94 |
| nssv452400 | copy number gain | NA19257 | BAC aCGH | Probe signal intensity | 86 |
| nssv452402 | copy number loss | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv452379 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452380 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452381 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452382 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452383 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452384 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452385 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452386 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452388 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452389 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452390 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452391 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452392 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452393 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452394 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452395 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452396 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452397 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452399 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452400 | Remapped | Perfect | NC_000013.11:g.(?_ 57051490)_(5725782 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,051,490 | 57,257,826 |
| nssv452402 | Remapped | Perfect | NC_000013.11:g.(?_ 57128456)_(5725782 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,128,456 | 57,257,826 |
| nssv452379 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452380 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452381 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452382 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452383 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452384 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452385 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452386 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452388 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452389 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452390 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452391 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452392 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452393 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452394 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452395 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452396 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452397 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452399 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452400 | Remapped | Perfect | NC_000013.10:g.(?_ 57625624)_(5783196 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,625,624 | 57,831,960 |
| nssv452402 | Remapped | Perfect | NC_000013.10:g.(?_ 57702590)_(5783196 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 57,702,590 | 57,831,960 |
| nssv452379 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452380 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452381 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452382 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452383 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452384 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452385 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452386 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452388 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452389 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452390 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452391 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452392 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452393 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452394 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452395 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452396 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452397 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452399 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452400 | Submitted genomic | NC_000013.9:g.(?_5 6523625)_(56729961 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,523,625 | 56,729,961 | ||
| nssv452402 | Submitted genomic | NC_000013.9:g.(?_5 6600591)_(56729961 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 56,600,591 | 56,729,961 |