nsv6636223
- 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:647,006
- Description:GRCh37/hg19 Xq21.1-21.2(chrX:84343474-84990478)x0 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: 915 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 915 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636223 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 85,088,468 | 85,735,473 |
| nsv6636223 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 84,343,474 | 84,990,478 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329631 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002472565.1, VCV001807759.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329631 | Remapped | Perfect | NC_000023.11:g.(?_ 85088468)_(8573547 3_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 85,088,468 | 85,735,473 |
| nssv18329631 | Submitted genomic | NC_000023.10:g.(?_ 84343474)_(8499047 8_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 84,343,474 | 84,990,478 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329631 | GRCh37: NC_000023.10:g.(?_84343474)_(84990478_?)del | copy number loss | unknown | not provided | Likely pathogenic | ClinVar | RCV002472565.1, VCV001807759.1 | 0 |