nsv469745
- Organism: Homo sapiens
- Study:nstd29 (Locke et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:168,750
- Publication(s):Locke et al. 2006
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: 763 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 763 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469745 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nsv469745 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nsv469745 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1672871 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1672941 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1673110 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1673245 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1673631 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1673699 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1673929 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674576 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674943 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1675334 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1676073 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1676157 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1676199 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1672871 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1672941 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1673110 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1673245 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1673631 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1673699 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1673929 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1674576 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1674943 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1675334 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1676073 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1676157 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1676199 | Remapped | Perfect | NC_000008.11:g.(?_ 14822836)_(1499158 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,822,836 | 14,991,585 |
| nssv1672871 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1672941 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1673110 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1673245 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1673631 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1673699 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1673929 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1674576 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1674943 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1675334 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1676073 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1676157 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1676199 | Remapped | Perfect | NC_000008.10:g.(?_ 14680345)_(1484909 4_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,680,345 | 14,849,094 |
| nssv1672871 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1672941 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1673110 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1673245 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1673631 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1673699 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1673929 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1674576 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1674943 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1675334 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1676073 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1676157 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 | ||
| nssv1676199 | Submitted genomic | NC_000008.8:g.(?_1 4690711)_(14859460 _?)del | NCBI34 (hg16) | NC_000008.8 | Chr8 | 14,690,711 | 14,859,460 |