nsv6137666
- 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:21,232,186
- Description:GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 AND Xq21.32q23 deletion
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 27695 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 27689 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137666 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 92,574,758 | 113,806,943 |
| nsv6137666 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 91,829,757 | 113,050,225 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683438 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001579312.2, VCV001209858.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683438 | Remapped | Good | NC_000023.11:g.(?_ 92574758)_(1138069 43_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 92,574,758 | 113,806,943 |
| nssv17683438 | Submitted genomic | NC_000023.10:g.(?_ 91829757)_(1130502 25_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 91,829,757 | 113,050,225 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683438 | GRCh37: NC_000023.10:g.(?_91829757)_(113050225_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001579312.2, VCV001209858.2 | 1 |