nsv942272
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:117,749
- 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: 1195 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 1201 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv942272 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 38,483,446 | 38,483,446 | 38,601,194 | 38,601,194 |
| nsv942272 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 38,772,374 | 38,772,374 | 38,894,325 | 38,894,325 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1669108 | copy number loss | 10 | Oligo aCGH | Probe signal intensity | 1 | 1,090 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1669108 | Remapped | Good | NC_000010.11:g.(38 483446_?)_(?_38601 194)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 38,483,446 | 38,601,194 |
| nssv1669108 | Submitted genomic | NC_000010.10:g.(38 772374_?)_(?_38894 325)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 38,772,374 | 38,894,325 |