nsv6635989
- 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:7,894,397
- Description:GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)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: 17464 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 17341 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6635989 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 1,813,895 | 9,708,291 |
| nsv6635989 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 1,932,788 | 9,676,331 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330215 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002473947.1, VCV001808630.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330215 | Remapped | Good | NC_000023.11:g.(?_ 1813895)_(9708291_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,813,895 | 9,708,291 |
| nssv18330215 | Submitted genomic | NC_000023.10:g.(?_ 1932788)_(9676331_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,932,788 | 9,676,331 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330215 | GRCh37: NC_000023.10:g.(?_1932788)_(9676331_?)del | copy number loss | unknown | not provided | Likely pathogenic | ClinVar | RCV002473947.1, VCV001808630.1 | 1 |