nsv6629293
- 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:327,408
- 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: 997 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 997 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629293 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 126,451,866 | 126,779,273 |
| nsv6629293 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 127,373,021 | 127,700,428 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18298024 | deletion | OSC4996 | SNP array | Probe signal intensity | nssv18297784, nssv18297785, nssv18298358 |
| nssv18300503 | deletion | OSC5473 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18298024 | Remapped | Perfect | NC_000004.12:g.(?_ 126451866)_(126779 273_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 126,451,866 | 126,779,273 |
| nssv18300503 | Remapped | Perfect | NC_000004.12:g.(?_ 126451866)_(126779 273_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 126,451,866 | 126,779,273 |
| nssv18298024 | Submitted genomic | NC_000004.11:g.(?_ 127373021)_(127700 428_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 127,373,021 | 127,700,428 | ||
| nssv18300503 | Submitted genomic | NC_000004.11:g.(?_ 127373021)_(127700 428_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 127,373,021 | 127,700,428 |