nsv821622
- 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:32,022
- 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: 474 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 479 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821622 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 240,199,559 | 240,231,580 |
| nsv821622 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 240,362,859 | 240,394,880 |
| nsv821622 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 236,688,900 | 236,720,921 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421224 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421224 | Remapped | Perfect | NC_000001.11:g.(?_ 240199559)_(240231 580_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 240,199,559 | 240,231,580 |
| nssv1421224 | Remapped | Perfect | NC_000001.10:g.(?_ 240362859)_(240394 880_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 240,362,859 | 240,394,880 |
| nssv1421224 | Submitted genomic | NC_000001.8:g.(?_2 36688900)_(2367209 21_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 236,688,900 | 236,720,921 |