nsv6626694
- 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:47,624
- 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: 326 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626694 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 4,051,006 | 4,098,629 |
| nsv6626694 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 4,031,653 | 4,079,276 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300348 | deletion | OSC5544 | SNP array | Probe signal intensity | nssv18300347, nssv18300952, nssv18300953 |
| nssv18301693 | deletion | OSC5672 | SNP array | Probe signal intensity | nssv18301447, nssv18301694, nssv18302059 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300348 | Remapped | Perfect | NC_000020.11:g.(?_ 4051006)_(4098629_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 4,051,006 | 4,098,629 |
| nssv18301693 | Remapped | Perfect | NC_000020.11:g.(?_ 4051006)_(4098629_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 4,051,006 | 4,098,629 |
| nssv18300348 | Submitted genomic | NC_000020.10:g.(?_ 4031653)_(4079276_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 4,031,653 | 4,079,276 | ||
| nssv18301693 | Submitted genomic | NC_000020.10:g.(?_ 4031653)_(4079276_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 4,031,653 | 4,079,276 |