nsv6625759
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:258,366
- 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: 1397 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1639 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625759 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,861,456 | 13,119,821 |
| nsv6625759 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,921,311 | 13,187,294 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284725 | deletion | OSC2496 | SNP array | Probe signal intensity | nssv18283442, nssv18284726, nssv18284727 |
| nssv18294606 | deletion | OSC4262 | SNP array | Probe signal intensity | nssv18294933 |
| nssv18322837 | deletion | OSC1464 | SNP array | Probe signal intensity | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284725 | Remapped | Good | NC_000001.11:g.(?_ 12861456)_(1311982 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,861,456 | 13,119,821 |
| nssv18294606 | Remapped | Good | NC_000001.11:g.(?_ 12861456)_(1311982 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,861,456 | 13,119,821 |
| nssv18322837 | Remapped | Good | NC_000001.11:g.(?_ 12861456)_(1311982 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,861,456 | 13,119,821 |
| nssv18284725 | Submitted genomic | NC_000001.10:g.(?_ 12921311)_(1318729 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,921,311 | 13,187,294 | ||
| nssv18294606 | Submitted genomic | NC_000001.10:g.(?_ 12921311)_(1318729 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,921,311 | 13,187,294 | ||
| nssv18322837 | Submitted genomic | NC_000001.10:g.(?_ 12921311)_(1318729 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,921,311 | 13,187,294 |