nsv6313066
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:193,825
- Description:GRCh37/hg19 Xp21.1(chrX:31695496-31889320) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 559 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 559 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313066 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,677,379 | 31,871,203 |
| nsv6313066 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,695,496 | 31,889,320 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969334 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052798.3, VCV001526779.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969334 | Remapped | Perfect | NC_000023.11:g.(?_ 31677379)_(3187120 3_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,677,379 | 31,871,203 |
| nssv17969334 | Submitted genomic | NC_000023.10:g.(?_ 31695496)_(3188932 0_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,695,496 | 31,889,320 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969334 | GRCh37: NC_000023.10:g.(?_31695496)_(31889320_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052798.3, VCV001526779.3 |