nsv6627001
- 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:69,012
- 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: 335 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 30,371,723 | 30,440,734 |
| nsv6627001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 31,744,041 | 31,813,052 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284996 | deletion | OSC2674 | SNP array | Probe signal intensity | 8 |
| nssv18295899 | deletion | OSC4552 | SNP array | Probe signal intensity | nssv18296239, nssv18295343 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284996 | Remapped | Perfect | NC_000021.9:g.(?_3 0371723)_(30440734 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 30,371,723 | 30,440,734 |
| nssv18295899 | Remapped | Perfect | NC_000021.9:g.(?_3 0371723)_(30440734 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 30,371,723 | 30,440,734 |
| nssv18284996 | Submitted genomic | NC_000021.8:g.(?_3 1744041)_(31813052 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 31,744,041 | 31,813,052 | ||
| nssv18295899 | Submitted genomic | NC_000021.8:g.(?_3 1744041)_(31813052 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 31,744,041 | 31,813,052 |