nsv4683062
- 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:389,900
- Description:NC_000023.10:g.(?_102831398)_(103220942_?)dup 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: 810 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 808 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683062 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 103,576,470 | 103,966,369 |
| nsv4683062 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 102,831,398 | 103,220,942 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214067 | duplication | Multiple | Multiple | PLP1-Related Disorders; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2 | Pathogenic | ClinVar | RCV001032572.1, VCV000832054.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214067 | Remapped | Good | NC_000023.11:g.(?_ 103576470)_(103966 369_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 103,576,470 | 103,966,369 |
| nssv16214067 | Submitted genomic | NC_000023.10:g.(?_ 102831398)_(103220 942_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 102,831,398 | 103,220,942 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214067 | GRCh37: NC_000023.10:g.(?_102831398)_(103220942_?)dup | duplication | germline | PLP1-Related Disorders; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2 | Pathogenic | ClinVar | RCV001032572.1, VCV000832054.1 |