nsv7093157
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:324,357
- Description:Single allele AND Pelizaeus-Merzbacher disease
- 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: 858 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 556 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093157 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 103,734,669 | 104,059,025 | ||
| nsv7093157 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 103,118,514 | 103,313,590 |
| nsv7093157 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 1 | 195,441 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18786313 | complex substitution | Multiple | Multiple | PELIZAEUS-MERZBACHER DISEASE; PMD; PLP1-Related Disorders; Pelizaeus-Merzbacher disease; Pelizaeus-Merzbacher disease; Sudanophilic leukodystrophy | Uncertain significance | ClinVar | RCV002510242.1, VCV001810757.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv18786313 | Submitted genomic | GRCh38 (hg38) | NC_000023.11 | ChrX | 103,734,669 | 104,059,025 | ||
| nssv18786313 | Remapped | Pass | GRCh37.p13 | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 1 | 195,441 |
| nssv18786313 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 103,118,514 | 103,313,590 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|
| nssv18786313 | complex substitution | maternal | PELIZAEUS-MERZBACHER DISEASE; PMD; PLP1-Related Disorders; Pelizaeus-Merzbacher disease; Pelizaeus-Merzbacher disease; Sudanophilic leukodystrophy | Uncertain significance | ClinVar | RCV002510242.1, VCV001810757.1 | 2 |