nsv821673
- 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:420,574
- 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: 1921 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1921 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821673 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 84,974,311 | 85,394,884 |
| nsv821673 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 85,548,446 | 85,969,019 |
| nsv821673 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 84,446,447 | 84,867,020 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421248 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421248 | Remapped | Perfect | NC_000013.11:g.(?_ 84974311)_(8539488 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 84,974,311 | 85,394,884 |
| nssv1421248 | Remapped | Perfect | NC_000013.10:g.(?_ 85548446)_(8596901 9_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 85,548,446 | 85,969,019 |
| nssv1421248 | Submitted genomic | NC_000013.9:g.(?_8 4446447)_(84867020 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 84,446,447 | 84,867,020 |