nsv821638
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:424,993
- Publication(s):Sebat et al. 2004
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: 1393 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1393 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821638 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 165,916,481 | 166,341,473 |
| nsv821638 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 166,837,633 | 167,262,625 |
| nsv821638 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 167,195,238 | 167,620,230 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421382 | copy number loss | ROMA | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421382 | Remapped | Perfect | NC_000004.12:g.(?_ 165916481)_(166341 473_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 165,916,481 | 166,341,473 |
| nssv1421382 | Remapped | Perfect | NC_000004.11:g.(?_ 166837633)_(167262 625_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 166,837,633 | 167,262,625 |
| nssv1421382 | Submitted genomic | NC_000004.9:g.(?_1 67195238)_(1676202 30_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 167,195,238 | 167,620,230 |