nsv821695
- 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:162,861
- 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: 700 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 700 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821695 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 30,134,381 | 30,297,241 |
| nsv821695 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 30,287,314 | 30,450,174 |
| nsv821695 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 30,178,581 | 30,341,441 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421333 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421333 | Remapped | Perfect | NC_000012.12:g.(?_ 30134381)_(3029724 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 30,134,381 | 30,297,241 |
| nssv1421333 | Remapped | Perfect | NC_000012.11:g.(?_ 30287314)_(3045017 4_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 30,287,314 | 30,450,174 |
| nssv1421333 | Submitted genomic | NC_000012.9:g.(?_3 0178581)_(30341441 _?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 30,178,581 | 30,341,441 |