nsv7095974
- 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:9,222
- Description:NC_000001.10:g.(?_228337558)_(228346779_?)dup AND Spastic paraplegia
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 129 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 228,149,857 | 228,159,078 |
| nsv7095974 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 228,337,558 | 228,346,779 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788742 | duplication | Multiple | Multiple | Spastic paraplegia; Spastic paraplegia | Uncertain significance | ClinVar | RCV003109702.2, VCV002426551.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788742 | Remapped | Perfect | NC_000001.11:g.(?_ 228149857)_(228159 078_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 228,149,857 | 228,159,078 |
| nssv18788742 | Submitted genomic | NC_000001.10:g.(?_ 228337558)_(228346 779_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 228,337,558 | 228,346,779 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788742 | GRCh37: NC_000001.10:g.(?_228337558)_(228346779_?)dup | duplication | germline | Spastic paraplegia; Spastic paraplegia | Uncertain significance | ClinVar | RCV003109702.2, VCV002426551.2 |