nsv821630
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:170,431
- 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: 464 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821630 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 155,440,295 | 155,610,725 |
| nsv821630 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 156,296,807 | 156,467,237 |
| nsv821630 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 156,122,315 | 156,292,745 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421351 | copy number loss | ROMA | Probe signal intensity |
| nssv1421353 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421351 | Remapped | Perfect | NC_000002.12:g.(?_ 155440295)_(155610 725_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 155,440,295 | 155,610,725 |
| nssv1421353 | Remapped | Perfect | NC_000002.12:g.(?_ 155440295)_(155610 725_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 155,440,295 | 155,610,725 |
| nssv1421351 | Remapped | Perfect | NC_000002.11:g.(?_ 156296807)_(156467 237_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 156,296,807 | 156,467,237 |
| nssv1421353 | Remapped | Perfect | NC_000002.11:g.(?_ 156296807)_(156467 237_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 156,296,807 | 156,467,237 |
| nssv1421351 | Submitted genomic | NC_000002.9:g.(?_1 56122315)_(1562927 45_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 156,122,315 | 156,292,745 | ||
| nssv1421353 | Submitted genomic | NC_000002.9:g.(?_1 56122315)_(1562927 45_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 156,122,315 | 156,292,745 |