nsv7148045
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:300,077
- Description:Single allele AND X-linked ichthyosis with steryl-sulfatase deficiency
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 815 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 815 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148045 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 7,050,240 | 7,350,316 | ||
| nsv7148045 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 6,968,281 | 7,268,357 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18841904 | deletion | Multiple | Multiple | ICHTHYOSIS, X-LINKED; XLI; X-linked ichthyosis with steryl-sulfatase deficiency | Pathogenic | ClinVar | RCV003328726.1, VCV002579751.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841904 | Submitted genomic | NC_000023.11:g.705 0240_7350316del | GRCh38 (hg38) | NC_000023.11 | ChrX | 7,050,240 | 7,350,316 | ||
| nssv18841904 | Remapped | Perfect | NC_000023.10:g.696 8281_7268357del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 6,968,281 | 7,268,357 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18841904 | GRCh38: NC_000023.11:g.7050240_7350316del | deletion | maternal | ICHTHYOSIS, X-LINKED; XLI; X-linked ichthyosis with steryl-sulfatase deficiency | Pathogenic | ClinVar | RCV003328726.1, VCV002579751.1 |