nsv6622634
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:82,326
- 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: 390 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622634 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 38,489,763 | 38,572,088 |
| nsv6622634 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 38,958,967 | 39,041,292 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287286 | deletion | OSC3021 | SNP array | Probe signal intensity | 11 |
| nssv18295248 | deletion | OSC4479 | SNP array | Probe signal intensity | nssv18296142, nssv18295249 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287286 | Remapped | Perfect | NC_000014.9:g.(?_3 8489763)_(38572088 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 38,489,763 | 38,572,088 |
| nssv18295248 | Remapped | Perfect | NC_000014.9:g.(?_3 8489763)_(38572088 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 38,489,763 | 38,572,088 |
| nssv18287286 | Submitted genomic | NC_000014.8:g.(?_3 8958967)_(39041292 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 38,958,967 | 39,041,292 | ||
| nssv18295248 | Submitted genomic | NC_000014.8:g.(?_3 8958967)_(39041292 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 38,958,967 | 39,041,292 |