nsv6315430
- 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:10,810,745
- Description:GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)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: 31858 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 31314 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315430 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 251,879 | 11,062,623 |
| nsv6315430 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 168,546 | 11,080,743 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976718 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002286358.1, VCV001707443.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976718 | Remapped | Good | NC_000023.11:g.(25 1879_?)_(?_1106262 3)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,879 | 11,062,623 |
| nssv17976718 | Submitted genomic | NC_000023.10:g.(16 8546_?)_(?_1108074 3)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 11,080,743 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976718 | GRCh37: NC_000023.10:g.(168546_?)_(?_11080743)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002286358.1, VCV001707443.1 | 1 |