nsv821675
- 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:41,413
- 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: 289 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821675 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 99,790,630 | 99,832,042 |
| nsv821675 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 100,442,884 | 100,484,296 |
| nsv821675 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 99,240,885 | 99,282,297 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421251 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421251 | Remapped | Perfect | NC_000013.11:g.(?_ 99790630)_(9983204 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 99,790,630 | 99,832,042 |
| nssv1421251 | Remapped | Perfect | NC_000013.10:g.(?_ 100442884)_(100484 296_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 100,442,884 | 100,484,296 |
| nssv1421251 | Submitted genomic | NC_000013.9:g.(?_9 9240885)_(99282297 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 99,240,885 | 99,282,297 |