nsv4728601
- 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:50,378,295
- Description:GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 71614 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 71695 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728601 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 78,258,582 | 128,636,876 |
| nsv4728601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 77,514,079 | 127,770,854 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255138 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259005.1, VCV000979829.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255138 | Remapped | Good | NC_000023.11:g.(?_ 78258582)_(1286368 76_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 78,258,582 | 128,636,876 |
| nssv16255138 | Submitted genomic | NC_000023.10:g.(?_ 77514079)_(1277708 54_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 77,514,079 | 127,770,854 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255138 | GRCh37: NC_000023.10:g.(?_77514079)_(127770854_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259005.1, VCV000979829.1 | 1 |