nsv821674
- 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:68,253
- 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: 418 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 418 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821674 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 89,059,795 | 89,128,047 |
| nsv821674 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 89,712,049 | 89,780,301 |
| nsv821674 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 88,510,050 | 88,578,302 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421249 | copy number loss | ROMA | Probe signal intensity |
| nssv1421250 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421249 | Remapped | Perfect | NC_000013.11:g.(?_ 89059795)_(8912804 7_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,059,795 | 89,128,047 |
| nssv1421250 | Remapped | Perfect | NC_000013.11:g.(?_ 89059795)_(8912804 7_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,059,795 | 89,128,047 |
| nssv1421249 | Remapped | Perfect | NC_000013.10:g.(?_ 89712049)_(8978030 1_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 89,712,049 | 89,780,301 |
| nssv1421250 | Remapped | Perfect | NC_000013.10:g.(?_ 89712049)_(8978030 1_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 89,712,049 | 89,780,301 |
| nssv1421249 | Submitted genomic | NC_000013.9:g.(?_8 8510050)_(88578302 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 88,510,050 | 88,578,302 | ||
| nssv1421250 | Submitted genomic | NC_000013.9:g.(?_8 8510050)_(88578302 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 88,510,050 | 88,578,302 |