nsv6634208
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,208
- Publication(s):Zarrei et al. 2023
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: 305 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634208 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 135,896,274 | 135,922,481 |
| nsv6634208 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 134,978,433 | 135,004,640 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18290482 | deletion | OSC3721 | SNP array | Probe signal intensity | nssv18290481, nssv18291372 |
| nssv18293304 | duplication | OSC4240 | SNP array | Probe signal intensity | nssv18293305, nssv18293998, nssv18294572 |
| nssv18315657 | deletion | OSC0845 | SNP array | Probe signal intensity | nssv18315001, nssv18315649 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18290482 | Remapped | Perfect | NC_000023.11:g.(?_ 135896274)_(135922 481_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,896,274 | 135,922,481 |
| nssv18293304 | Remapped | Perfect | NC_000023.11:g.(?_ 135896274)_(135922 481_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,896,274 | 135,922,481 |
| nssv18315657 | Remapped | Perfect | NC_000023.11:g.(?_ 135896274)_(135922 481_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,896,274 | 135,922,481 |
| nssv18290482 | Submitted genomic | NC_000023.10:g.(?_ 134978433)_(135004 640_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,978,433 | 135,004,640 | ||
| nssv18293304 | Submitted genomic | NC_000023.10:g.(?_ 134978433)_(135004 640_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,978,433 | 135,004,640 | ||
| nssv18315657 | Submitted genomic | NC_000023.10:g.(?_ 134978433)_(135004 640_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,978,433 | 135,004,640 |