nsv6137764
- 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:340,862
- Description:Single allele AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 774 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 774 SVs from 54 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6137764 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,627,663 | 31,968,524 |
nsv6137764 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,645,780 | 31,986,641 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17683526 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001663746.2, VCV001256404.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17683526 | Remapped | Perfect | NC_000023.11:g.(?_ 31627663)_(3196852 4_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,627,663 | 31,968,524 |
nssv17683526 | Submitted genomic | NC_000023.10:g.(?_ 31645780)_(3198664 1_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,645,780 | 31,986,641 |
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 |
---|---|---|---|---|---|---|---|
nssv17683526 | GRCh37: NC_000023.10:g.(?_31645780)_(31986641_?)del | deletion | unknown | not provided | Pathogenic | ClinVar | RCV001663746.2, VCV001256404.2 |