nsv4366487
- 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:115,400
- 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: 462 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 462 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4366487 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 58,537,757 | 58,653,156 |
| nsv4366487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 58,931,540 | 59,046,938 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15678372 | copy number loss | 208583 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15678372 | Remapped | Good | NC_000012.12:g.(?_ 58537757)_(5865315 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 58,537,757 | 58,653,156 |
| nssv15678372 | Submitted genomic | NC_000012.11:g.(?_ 58931540)_(5904693 8_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 58,931,540 | 59,046,938 |