nsv3887384
- 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:19,053
- Description:GRCh37/hg19 Xp22.2(chrX:10187807-10189796) AND CLCN4-related disorder
- Publication(s):Palmer et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 142 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3887384 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 10,214,388 | 10,219,767 | 10,221,756 | 10,233,440 |
nsv3887384 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 10,182,428 | 10,187,807 | 10,189,796 | 10,201,480 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15123441 | copy number loss | Multiple | Multiple | CLCN4-related disorder | Pathogenic | ClinVar | RCV000239749.1, VCV000209114.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15123441 | Remapped | Perfect | NC_000023.11:g.(10 214388_10219767)_( 10221756_10233440) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 10,214,388 | 10,219,767 | 10,221,756 | 10,233,440 |
nssv15123441 | Submitted genomic | NC_000023.10:g.(10 182428_10187807)_( 10189796_10201480) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 10,182,428 | 10,187,807 | 10,189,796 | 10,201,480 |
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 |
---|---|---|---|---|---|---|---|
nssv15123441 | GRCh37: NC_000023.10:g.(10182428_10187807)_(10189796_10201480)del | copy number loss | maternal | CLCN4-related disorder | Pathogenic | ClinVar | RCV000239749.1, VCV000209114.1 |