nsv934943
- 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:68,219
- 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: 565 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 568 SVs from 53 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv934943 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 140,997,546 | 140,997,546 | 141,065,764 | 141,065,764 |
| nsv934943 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 140,079,711 | 140,079,711 | 140,159,955 | 140,159,955 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1664501 | copy number gain | 6 | SNP array | SNP genotyping analysis | 4 | 980 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1664501 | Remapped | Pass | NC_000023.11:g.(14 0997546_?)_(?_1410 65764)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 140,997,546 | 141,065,764 |
| nssv1664501 | Submitted genomic | NC_000023.10:g.(14 0079711_?)_(?_1401 59955)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 140,079,711 | 140,159,955 |