nsv6626936
- 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:39,752
- 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: 284 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626936 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 24,673,309 | 24,713,060 |
| nsv6626936 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 25,069,276 | 25,109,027 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18304488 | deletion | OSC0636 | SNP array | Probe signal intensity | 6 |
| nssv18324811 | deletion | OSC1831 | SNP array | Probe signal intensity | nssv18324813, nssv18324812, nssv18325484 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18304488 | Remapped | Perfect | NC_000022.11:g.(?_ 24673309)_(2471306 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,673,309 | 24,713,060 |
| nssv18324811 | Remapped | Perfect | NC_000022.11:g.(?_ 24673309)_(2471306 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 24,673,309 | 24,713,060 |
| nssv18304488 | Submitted genomic | NC_000022.10:g.(?_ 25069276)_(2510902 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,069,276 | 25,109,027 | ||
| nssv18324811 | Submitted genomic | NC_000022.10:g.(?_ 25069276)_(2510902 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,069,276 | 25,109,027 |