nsv6315454
- 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:10,148,902
- Description:GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 31127 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 30571 SVs from 102 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315454 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 251,879 | 10,400,780 |
| nsv6315454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 168,546 | 10,368,820 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977092 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002285049.1, VCV001706494.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977092 | Remapped | Good | NC_000023.11:g.(25 1879_?)_(?_1040078 0)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,879 | 10,400,780 |
| nssv17977092 | Submitted genomic | NC_000023.10:g.(16 8546_?)_(?_1036882 0)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 10,368,820 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17977092 | GRCh37: NC_000023.10:g.(168546_?)_(?_10368820)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002285049.1, VCV001706494.1 | 1 |