nsv6313301
- 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:15,023,830
- Description:GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 20568 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 20656 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313301 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 102,727,547 | 117,751,376 |
| nsv6313301 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 101,982,475 | 116,885,339 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969694 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053166.3, VCV001526834.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969694 | Remapped | Good | NC_000023.11:g.(?_ 102727547)_(117751 376_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 102,727,547 | 117,751,376 |
| nssv17969694 | Submitted genomic | NC_000023.10:g.(?_ 101982475)_(116885 339_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 101,982,475 | 116,885,339 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969694 | GRCh37: NC_000023.10:g.(?_101982475)_(116885339_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053166.3, VCV001526834.3 |