nsv6315389
- 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:144,499,422
- Description:GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)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: 201813 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 201588 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315389 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 11,504,645 | 156,004,066 |
| nsv6315389 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 11,522,765 | 155,233,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976729 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002286357.1, VCV001707442.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976729 | Remapped | Good | NC_000023.11:g.(11 504645_?)_(?_15600 4066)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 11,504,645 | 156,004,066 |
| nssv17976729 | Submitted genomic | NC_000023.10:g.(11 522765_?)_(?_15523 3731)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 11,522,765 | 155,233,731 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976729 | GRCh37: NC_000023.10:g.(11522765_?)_(?_155233731)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002286357.1, VCV001707442.1 | 1 |