nsv6314743
- 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:14,868,793
- Description:GRCh37/hg19 Yq11.21-11.23(chrY:13905421-28799654) 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: 9174 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 9179 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314743 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 11,784,715 | 26,653,507 |
| nsv6314743 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 13,905,421 | 28,799,654 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976062 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002221454.2, VCV001676303.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976062 | Remapped | Good | NC_000024.10:g.(11 784715_?)_(?_26653 507)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 11,784,715 | 26,653,507 |
| nssv17976062 | Submitted genomic | NC_000024.9:g.(139 05421_?)_(?_287996 54)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 13,905,421 | 28,799,654 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976062 | GRCh37: NC_000024.9:g.(13905421_?)_(?_28799654)del | copy number loss | de novo | not provided | Pathogenic | ClinVar | RCV002221454.2, VCV001676303.2 |