nsv935916
- 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:68,187
- 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: 813 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 813 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv935916 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 35,707,196 | 35,707,196 | 35,775,382 | 35,775,382 |
| nsv935916 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 35,932,262 | 35,932,262 | 36,000,448 | 36,000,448 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1662427 | copy number loss | 6 | SNP array | SNP genotyping analysis | 1 | 980 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1662427 | Remapped | Perfect | NC_000002.12:g.(35 707196_?)_(?_35775 382)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 35,707,196 | 35,775,382 |
| nssv1662427 | Submitted genomic | NC_000002.11:g.(35 932262_?)_(?_36000 448)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 35,932,262 | 36,000,448 |