nsv6625763
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,667
- 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: 1050 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1050 SVs from 76 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625763 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 1,477,279 | 1,511,945 |
nsv6625763 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 1,412,659 | 1,447,325 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18297702 | deletion | OSC4930 | SNP array | Probe signal intensity | 8 |
nssv18300483 | deletion | OSC5455 | SNP array | Probe signal intensity | nssv18300481, nssv18300482, nssv18300828 |
nssv18302101 | deletion | OSC5710 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18297702 | Remapped | Perfect | NC_000001.11:g.(?_ 1477279)_(1511945_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,477,279 | 1,511,945 |
nssv18300483 | Remapped | Perfect | NC_000001.11:g.(?_ 1477279)_(1511945_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,477,279 | 1,511,945 |
nssv18302101 | Remapped | Perfect | NC_000001.11:g.(?_ 1477279)_(1511945_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,477,279 | 1,511,945 |
nssv18297702 | Submitted genomic | NC_000001.10:g.(?_ 1412659)_(1447325_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,412,659 | 1,447,325 | ||
nssv18300483 | Submitted genomic | NC_000001.10:g.(?_ 1412659)_(1447325_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,412,659 | 1,447,325 | ||
nssv18302101 | Submitted genomic | NC_000001.10:g.(?_ 1412659)_(1447325_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,412,659 | 1,447,325 |