nsv6634681
- 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:374,986
- Description:NC_000023.10:g.(32663270_32715986)_(32867938_3
3038255)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: 1085 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1085 SVs from 66 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6634681 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,645,153 | 32,697,869 | 32,849,821 | 33,020,138 |
nsv6634681 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,663,270 | 32,715,986 | 32,867,938 | 33,038,255 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18326557 | deletion | Multiple | Multiple | Dystrophinopathies; Dystrophinopathies | Pathogenic | ClinVar | RCV002308588.1, VCV001723312.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv18326557 | Remapped | Perfect | NC_000023.11:g.(32 645153_32697869)_( 32849821_33020138) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,645,153 | 32,697,869 | 32,849,821 | 33,020,138 |
nssv18326557 | Submitted genomic | NC_000023.10:g.(32 663270_32715986)_( 32867938_33038255) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,663,270 | 32,715,986 | 32,867,938 | 33,038,255 |
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 |
---|---|---|---|---|---|---|---|
nssv18326557 | GRCh37: NC_000023.10:g.(32663270_32715986)_(32867938_33038255)del | deletion | germline | Dystrophinopathies; Dystrophinopathies | Pathogenic | ClinVar | RCV002308588.1, VCV001723312.1 |