nsv6313427
- 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:245,470
- Description:GRCh37/hg19 Xp21.1(chrX:31658783-31904252) 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: 630 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 630 SVs from 49 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6313427 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,640,666 | 31,886,135 |
nsv6313427 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,658,783 | 31,904,252 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17969333 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052797.3, VCV001526778.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17969333 | Remapped | Perfect | NC_000023.11:g.(?_ 31640666)_(3188613 5_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,640,666 | 31,886,135 |
nssv17969333 | Submitted genomic | NC_000023.10:g.(?_ 31658783)_(3190425 2_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,658,783 | 31,904,252 |
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 |
---|---|---|---|---|---|---|---|
nssv17969333 | GRCh37: NC_000023.10:g.(?_31658783)_(31904252_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052797.3, VCV001526778.3 |