nsv4450778
- 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:1,553,511
- Description:GRCh37/hg19 Xq22.1(chrX:100868897-102422345)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: 1726 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1733 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4450778 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 101,613,907 | 103,167,417 |
| nsv4450778 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 100,868,897 | 102,422,345 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775065 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846776.2, VCV000686068.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775065 | Remapped | Good | NC_000023.11:g.(?_ 101613907)_(103167 417_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 101,613,907 | 103,167,417 |
| nssv15775065 | Submitted genomic | NC_000023.10:g.(?_ 100868897)_(102422 345_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 100,868,897 | 102,422,345 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775065 | GRCh37: NC_000023.10:g.(?_100868897)_(102422345_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846776.2, VCV000686068.2 | 1 |