nsv936708
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72,630
- Publication(s):de Ligt et al. 2013
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: 2624 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2624 SVs from 96 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv936708 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,259,375 | 78,332,004 | 78,332,004 |
| nsv936708 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,969,092 | 78,969,092 | 79,041,721 | 79,041,721 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1667643 | copy number loss | 4 | SNP array | SNP genotyping analysis | 1 | 1,068 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1667643 | Remapped | Perfect | NC_000006.12:g.(78 259375_?)_(?_78332 004)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,004 |
| nssv1667643 | Submitted genomic | NC_000006.11:g.(78 969092_?)_(?_79041 721)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,721 |