nsv5674181
- 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:572,170
- Description:Single allele AND multiple conditions
- Publication(s):Hobson et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 974 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 977 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5674181 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 103,253,620 | 103,825,789 |
| nsv5674181 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 102,508,548 | 103,080,719 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17173302 | duplication | Multiple | Multiple | PELIZAEUS-MERZBACHER DISEASE; PMD; PLP1-Related Disorders; Pelizaeus-Merzbacher disease; Pelizaeus-Merzbacher disease; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2; Sudanophilic leukodystrophy | Pathogenic | ClinVar | RCV001391673.1, VCV001077188.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173302 | Remapped | Perfect | NC_000023.11:g.103 253620_103825789du p | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 103,253,620 | 103,825,789 |
| nssv17173302 | Submitted genomic | NC_000023.10:g.102 508548_103080719du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 102,508,548 | 103,080,719 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17173302 | GRCh37: NC_000023.10:g.102508548_103080719dup | duplication | germline | PELIZAEUS-MERZBACHER DISEASE; PMD; PLP1-Related Disorders; Pelizaeus-Merzbacher disease; Pelizaeus-Merzbacher disease; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2; Sudanophilic leukodystrophy | Pathogenic | ClinVar | RCV001391673.1, VCV001077188.1 | 3 |