nsv6629982
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:51,578
- Publication(s):Zarrei et al. 2023
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: 790 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 764 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629982 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 73,179 | 124,756 |
| nsv6629982 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 73,071 | 124,638 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18308170 | duplication | OSC6766 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18308170 | Remapped | Good | NC_000004.12:g.(?_ 73179)_(124756_?)d up | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 73,179 | 124,756 |
| nssv18308170 | Submitted genomic | NC_000004.11:g.(?_ 73071)_(124638_?)d up | GRCh37 (hg19) | NC_000004.11 | Chr4 | 73,071 | 124,638 |