nsv6634673
- 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:367,734
- Description:NC_000023.10:g.(31525571_31645789)_(31854937_3
1893304)del AND Qualitative or quantitative defects of dystrophin - Publication(s):Darras et al. 2000
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 808 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 808 SVs from 63 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6634673 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,507,454 | 31,627,672 | 31,836,820 | 31,875,187 |
nsv6634673 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,525,571 | 31,645,789 | 31,854,937 | 31,893,304 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18326567 | deletion | Multiple | Multiple | Dystrophinopathies; Dystrophinopathies | Pathogenic | ClinVar | RCV002308530.1, VCV001723254.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv18326567 | Remapped | Perfect | NC_000023.11:g.(31 507454_31627672)_( 31836820_31875187) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,507,454 | 31,627,672 | 31,836,820 | 31,875,187 |
nssv18326567 | Submitted genomic | NC_000023.10:g.(31 525571_31645789)_( 31854937_31893304) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,525,571 | 31,645,789 | 31,854,937 | 31,893,304 |
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 |
---|---|---|---|---|---|---|---|
nssv18326567 | GRCh37: NC_000023.10:g.(31525571_31645789)_(31854937_31893304)del | deletion | germline | Dystrophinopathies; Dystrophinopathies | Pathogenic | ClinVar | RCV002308530.1, VCV001723254.1 |