nsv6625816
- 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:254,178
- 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: 1375 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1614 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625816 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,861,397 | 13,115,574 |
| nsv6625816 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,921,252 | 13,183,046 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18289604 | deletion | OSC3582 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18289604 | Remapped | Good | NC_000001.11:g.(?_ 12861397)_(1311557 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,861,397 | 13,115,574 |
| nssv18289604 | Submitted genomic | NC_000001.10:g.(?_ 12921252)_(1318304 6_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,921,252 | 13,183,046 |