nsv6636471
- 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:219,254
- Description:GRCh37/hg19 Xq22.2(chrX:103017429-103236332)x3 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: 557 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 555 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636471 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 103,762,501 | 103,981,754 |
| nsv6636471 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 103,017,429 | 103,236,332 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329118 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002475572.1, VCV001809199.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329118 | Remapped | Good | NC_000023.11:g.(?_ 103762501)_(103981 754_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 103,762,501 | 103,981,754 |
| nssv18329118 | Submitted genomic | NC_000023.10:g.(?_ 103017429)_(103236 332_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 103,017,429 | 103,236,332 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329118 | GRCh37: NC_000023.10:g.(?_103017429)_(103236332_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002475572.1, VCV001809199.1 | 3 |