nsv4769248
- Organism: Homo sapiens
- Study:nstd201 (Favilla et al. 2021)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,600,375
- Publication(s):Favilla et al. 2021
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: 49978 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 49447 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769248 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 251,879 | 21,852,253 |
| nsv4769248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 168,546 | 21,870,371 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv16297006 | copy number loss | 3 | SNP array | Probe signal intensity | nssv16297007 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16297006 | Remapped | Good | NC_000023.11:g.(?_ 251879)_(21852253_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,879 | 21,852,253 |
| nssv16297006 | Submitted genomic | NC_000023.10:g.(?_ 168546)_(21870371_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 21,870,371 |