nsv6634172
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:567,729
- 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: 1758 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1768 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634172 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 7,599,284 | 8,167,012 |
| nsv6634172 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 7,517,325 | 8,135,053 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18294778 | duplication | OSC4405 | SNP array | Probe signal intensity | 11 |
| nssv18297222 | duplication | OSC0499 | SNP array | Probe signal intensity | 10 |
| nssv18324347 | duplication | OSC1689 | SNP array | Probe signal intensity | 9 |
| nssv18326053 | duplication | OSC1956 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18294778 | Remapped | Pass | NC_000023.11:g.(?_ 7599284)_(8167012_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 7,599,284 | 8,167,012 |
| nssv18297222 | Remapped | Pass | NC_000023.11:g.(?_ 7599284)_(8167012_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 7,599,284 | 8,167,012 |
| nssv18324347 | Remapped | Pass | NC_000023.11:g.(?_ 7599284)_(8167012_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 7,599,284 | 8,167,012 |
| nssv18326053 | Remapped | Pass | NC_000023.11:g.(?_ 7599284)_(8167012_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 7,599,284 | 8,167,012 |
| nssv18294778 | Submitted genomic | NC_000023.10:g.(?_ 7517325)_(8135053_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 7,517,325 | 8,135,053 | ||
| nssv18297222 | Submitted genomic | NC_000023.10:g.(?_ 7517325)_(8135053_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 7,517,325 | 8,135,053 | ||
| nssv18324347 | Submitted genomic | NC_000023.10:g.(?_ 7517325)_(8135053_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 7,517,325 | 8,135,053 | ||
| nssv18326053 | Submitted genomic | NC_000023.10:g.(?_ 7517325)_(8135053_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 7,517,325 | 8,135,053 |