nsv3318999
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:150,945
- Description:USP9X
- Publication(s):Au et al. 2017, Homan et al. 2014, Reijnders et al. 2016, Riggs et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 440 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 41,085,635 | 41,236,579 |
| nsv3318999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 40,944,888 | 41,095,832 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv14472029 | copy number loss | Curated | Curated | MENTAL RETARDATION, X-LINKED 99; MRX99 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14472029 | Remapped | Perfect | NC_000023.11:g.(?_ 41085635)_(4123657 9_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 41,085,635 | 41,236,579 |
| nssv14472029 | Submitted genomic | NC_000023.10:g.(?_ 40944888)_(4109583 2_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 40,944,888 | 41,095,832 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv14472029 | GRCh37: NC_000023.10:g.(?_40944888)_(41095832_?)del | copy number loss | MENTAL RETARDATION, X-LINKED 99; MRX99 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |