nsv6626735
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:191,802
- 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: 1526 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1520 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626735 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,413,734 | 10,605,535 |
| nsv6626735 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 10,906,922 | 11,098,723 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18290367 | deletion | OSC3631 | SNP array | Probe signal intensity | 8 |
| nssv18293626 | deletion | OSC4223 | SNP array | Probe signal intensity | 10 |
| nssv18294335 | deletion | OSC4308 | SNP array | Probe signal intensity | 8 |
| nssv18307920 | deletion | OSC0715 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18290367 | Remapped | Perfect | NC_000021.9:g.(?_1 0413734)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,413,734 | 10,605,535 |
| nssv18293626 | Remapped | Perfect | NC_000021.9:g.(?_1 0413734)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,413,734 | 10,605,535 |
| nssv18294335 | Remapped | Perfect | NC_000021.9:g.(?_1 0413734)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,413,734 | 10,605,535 |
| nssv18307920 | Remapped | Perfect | NC_000021.9:g.(?_1 0413734)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,413,734 | 10,605,535 |
| nssv18290367 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(11098723 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 11,098,723 | ||
| nssv18293626 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(11098723 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 11,098,723 | ||
| nssv18294335 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(11098723 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 11,098,723 | ||
| nssv18307920 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(11098723 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 11,098,723 |