nsv519476
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:327,223
- Publication(s):Shaikh et al. 2009
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: 1530 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1530 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv519476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 194,645,278 | 194,972,500 |
| nsv519476 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 194,366,007 | 194,693,229 |
| nsv519476 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 195,847,304 | 196,174,526 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv696873 | copy number gain | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv696873 | Remapped | Perfect | NC_000003.12:g.(?_ 194645278)_(194972 500_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 194,645,278 | 194,972,500 |
| nssv696873 | Remapped | Perfect | NC_000003.11:g.(?_ 194366007)_(194693 229_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 194,366,007 | 194,693,229 |
| nssv696873 | Submitted genomic | NC_000003.9:g.(?_1 95847304)_(1961745 26_?)dup | NCBI35 (hg17) | NC_000003.9 | Chr3 | 195,847,304 | 196,174,526 |