nsv821620
- 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:143,095
- 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: 269 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 1426 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821620 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | 120,179,980 | 120,323,074 |
| nsv821620 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 144,885,908 | 145,095,806 |
| nsv821620 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 142,374,952 | 142,584,850 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421191 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421191 | Remapped | Pass | NC_000001.11:g.(?_ 120179980)_(120323 074_?)del | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | 120,179,980 | 120,323,074 |
| nssv1421191 | Remapped | Perfect | NC_000001.10:g.(?_ 144885908)_(145095 806_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 144,885,908 | 145,095,806 |
| nssv1421191 | Submitted genomic | NC_000001.8:g.(?_1 42374952)_(1425848 50_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 142,374,952 | 142,584,850 |