nsv4385082
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,217,106
- Publication(s):Zarrei et al. 2019
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: 9242 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 9375 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385082 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 31,734,547 | 33,951,652 |
| nsv4385082 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 31,745,868 | 33,754,119 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15667133 | copy number gain | 7-0121-003 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15667133 | Remapped | Pass | NC_000016.10:g.(?_ 31734547)_(3395165 2_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 31,734,547 | 33,951,652 |
| nssv15667133 | Submitted genomic | NC_000016.9:g.(?_3 1745868)_(33754119 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 31,745,868 | 33,754,119 |