nsv482768
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:126,830
- Publication(s):Sharp 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: 1236 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1238 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482768 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 159,205,836 | 159,332,665 |
| nsv482768 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 158,998,525 | 159,125,355 |
| nsv482768 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000007.10 | Chr7 | 158,415,380 | 158,542,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3008750 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3008750 | Remapped | Good | NC_000007.14:g.(?_ 159205836)_(159332 665_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 159,205,836 | 159,332,665 |
| nssv3008750 | Remapped | Perfect | NC_000007.13:g.(?_ 158998525)_(159125 355_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,998,525 | 159,125,355 |
| nssv3008750 | Submitted genomic | NC_000007.10:g.(?_ 158415380)_(158542 210_?)del | NCBI34 (hg16) | NC_000007.10 | Chr7 | 158,415,380 | 158,542,210 |