nsv7098105
- 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:1,911
- Description:NC_000023.10:g.(?_103040922)_(103042832_?)del AND Hereditary spastic paraplegia 2
- 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: 92 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098105 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 103,785,993 | 103,787,903 |
| nsv7098105 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 103,040,922 | 103,042,832 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789350 | deletion | Multiple | Multiple | PLP1-Related Disorders; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2 | Pathogenic | ClinVar | RCV003111390.2, VCV002423248.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789350 | Remapped | Perfect | NC_000023.11:g.(?_ 103785993)_(103787 903_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 103,785,993 | 103,787,903 |
| nssv18789350 | Submitted genomic | NC_000023.10:g.(?_ 103040922)_(103042 832_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 103,040,922 | 103,042,832 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789350 | GRCh37: NC_000023.10:g.(?_103040922)_(103042832_?)del | deletion | germline | PLP1-Related Disorders; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2 | Pathogenic | ClinVar | RCV003111390.2, VCV002423248.2 |