nsv3317474
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,477
- Publication(s):Frenkel et al. 2019
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: 218 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 52 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3317474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 85,968,426 | 85,977,902 |
nsv3317474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 86,511,657 | 86,521,133 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14468971 | copy number loss | M2193 | SNP array | SNP genotyping analysis | 17 |
nssv14469391 | copy number loss | M2232 | SNP array | SNP genotyping analysis | 12 |
nssv14470410 | copy number loss | M2338 | SNP array | SNP genotyping analysis | 17 |
nssv14471680 | copy number loss | M2477 | SNP array | SNP genotyping analysis | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14468971 | Remapped | Perfect | NC_000015.10:g.(?_ 85968426)_(8597790 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 85,968,426 | 85,977,902 |
nssv14469391 | Remapped | Perfect | NC_000015.10:g.(?_ 85968426)_(8597790 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 85,968,426 | 85,977,902 |
nssv14470410 | Remapped | Perfect | NC_000015.10:g.(?_ 85968426)_(8597790 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 85,968,426 | 85,977,902 |
nssv14471680 | Remapped | Perfect | NC_000015.10:g.(?_ 85968426)_(8597790 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 85,968,426 | 85,977,902 |
nssv14468971 | Submitted genomic | NC_000015.9:g.(?_8 6511657)_(86521133 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 86,511,657 | 86,521,133 | ||
nssv14469391 | Submitted genomic | NC_000015.9:g.(?_8 6511657)_(86521133 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 86,511,657 | 86,521,133 | ||
nssv14470410 | Submitted genomic | NC_000015.9:g.(?_8 6511657)_(86521133 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 86,511,657 | 86,521,133 | ||
nssv14471680 | Submitted genomic | NC_000015.9:g.(?_8 6511657)_(86521133 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 86,511,657 | 86,521,133 |