nsv4685584
- 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:2,283
- Description:NC_000023.11:g.(?_101346475)_(101348757_?)del AND Deafness dystonia syndrome
- Publication(s):Tranebjærg et al. 2003
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 88 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685584 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 101,346,475 | 101,348,757 |
| nsv4685584 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 100,601,463 | 100,603,745 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216551 | deletion | Multiple | Multiple | Deafness dystonia syndrome; Deafness-Dystonia-Optic Neuronopathy Syndrome; MOHR-TRANEBJAERG SYNDROME; MTS; Mohr-Tranebjaerg syndrome | Pathogenic | ClinVar | RCV001195299.5, VCV000929951.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216551 | Remapped | Perfect | NC_000023.11:g.(?_ 101346475)_(101348 757_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 101,346,475 | 101,348,757 |
| nssv16216551 | Submitted genomic | NC_000023.10:g.(?_ 100601463)_(100603 745_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 100,601,463 | 100,603,745 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216551 | GRCh37: NC_000023.10:g.(?_100601463)_(100603745_?)del | deletion | germline | Deafness dystonia syndrome; Deafness-Dystonia-Optic Neuronopathy Syndrome; MOHR-TRANEBJAERG SYNDROME; MTS; Mohr-Tranebjaerg syndrome | Pathogenic | ClinVar | RCV001195299.5, VCV000929951.4 |