nsv491503
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:
- Submitted on:GRCh37 (hg19)
- Variant Calls:0
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,619,143
- Description:Xp22.31 recurrent region (includes STS)
- Publication(s):Riggs et al. 2011
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2867 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 2878 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv491503 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 6,537,771 | 8,156,913 |
| nsv491503 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 6,455,812 | 8,124,954 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv13656567 | copy number gain | Curated | Curated | No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms | Benign | ClinGen Dosage Sensitivity Map | 3 |
| nssv1494812 | copy number loss | Curated | Curated | ICHTHYOSIS, X-LINKED; XLI | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13656567 | Remapped | Good | NC_000023.11:g.(?_ 6537771)_(8156913_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,537,771 | 8,156,913 |
| nssv1494812 | Remapped | Good | NC_000023.11:g.(?_ 6537771)_(8156913_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,537,771 | 8,156,913 |
| nssv13656567 | Submitted genomic | NC_000023.10:g.(?_ 6455812)_(8124954_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,455,812 | 8,124,954 | ||
| nssv1494812 | Submitted genomic | NC_000023.10:g.(?_ 6455812)_(8124954_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,455,812 | 8,124,954 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv13656567 | GRCh37: NC_000023.10:g.(?_6455812)_(8124954_?)dup | copy number gain | No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms | Benign | ClinGen Dosage Sensitivity Map | 3 |
| nssv1494812 | GRCh37: NC_000023.10:g.(?_6455812)_(8124954_?)del | copy number loss | ICHTHYOSIS, X-LINKED; XLI | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |