nsv6313346
- 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:17,112,787
- Description:GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) 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: 22392 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 22383 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313346 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 62,755,385 | 79,868,171 |
| nsv6313346 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 61,974,855 | 79,123,671 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969664 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053136.3, VCV001526804.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969664 | Remapped | Good | NC_000023.11:g.(?_ 62755385)_(7986817 1_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 62,755,385 | 79,868,171 |
| nssv17969664 | Submitted genomic | NC_000023.10:g.(?_ 61974855)_(7912367 1_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 61,974,855 | 79,123,671 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969664 | GRCh37: NC_000023.10:g.(?_61974855)_(79123671_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053136.3, VCV001526804.3 |