nsv428268
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:103,181
- 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: 377 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 380 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428268 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nsv428268 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nsv428268 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv452341 | copy number loss | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
| nssv452354 | copy number gain | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
| nssv452365 | copy number gain | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
| nssv452376 | copy number loss | HGDP00463 | BAC aCGH | Probe signal intensity | 90 |
| nssv452387 | copy number gain | HGDP00471 | BAC aCGH | Probe signal intensity | 73 |
| nssv452398 | copy number loss | HGDP00472 | BAC aCGH | Probe signal intensity | 65 |
| nssv452409 | copy number loss | HGDP00476 | BAC aCGH | Probe signal intensity | 69 |
| nssv452420 | copy number loss | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
| nssv452431 | copy number loss | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
| nssv452442 | copy number loss | HGDP01088 | BAC aCGH | Probe signal intensity | 78 |
| nssv452453 | copy number loss | HGDP01089 | BAC aCGH | Probe signal intensity | 65 |
| nssv452465 | copy number loss | HGDP01093 | BAC aCGH | Probe signal intensity | 95 |
| nssv452476 | copy number loss | NA18498 | BAC aCGH | Probe signal intensity | 97 |
| nssv452487 | copy number loss | NA19096 | BAC aCGH | Probe signal intensity | 100 |
| nssv452498 | copy number loss | NA19113 | BAC aCGH | Probe signal intensity | 122 |
| nssv452509 | copy number loss | NA19147 | BAC aCGH | Probe signal intensity | 75 |
| nssv452520 | copy number loss | NA19181 | BAC aCGH | Probe signal intensity | 87 |
| nssv452531 | copy number loss | NA19225 | BAC aCGH | Probe signal intensity | 71 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv452341 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452354 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452365 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452376 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452387 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452398 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452409 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452420 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452431 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452442 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452453 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452465 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452476 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452487 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452498 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452509 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452520 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452531 | Remapped | Perfect | NC_000001.11:g.(?_ 169812865)_(169916 045_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,812,865 | 169,916,045 |
| nssv452341 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452354 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452365 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452376 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452387 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452398 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452409 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452420 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452431 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452442 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452453 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452465 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452476 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452487 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452498 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452509 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452520 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452531 | Remapped | Perfect | NC_000001.10:g.(?_ 169782006)_(169885 186_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 169,782,006 | 169,885,186 |
| nssv452341 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452354 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452365 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452376 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452387 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452398 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452409 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452420 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452431 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452442 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452453 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452465 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452476 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452487 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452498 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452509 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452520 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 | ||
| nssv452531 | Submitted genomic | NC_000001.9:g.(?_1 68048630)_(1681518 10_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 168,048,630 | 168,151,810 |