nsv3317463
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:133,666
- 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: 1683 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1683 SVs from 86 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3317463 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 162,155,251 | 162,288,916 |
nsv3317463 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 162,576,283 | 162,709,948 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14468901 | copy number loss | M2188 | SNP array | SNP genotyping analysis | 27 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14468901 | Remapped | Perfect | NC_000006.12:g.(?_ 162155251)_(162288 916_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 162,155,251 | 162,288,916 |
nssv14468901 | Submitted genomic | NC_000006.11:g.(?_ 162576283)_(162709 948_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 162,576,283 | 162,709,948 |