nsv4684047
- 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:14,973,794
- Description:GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0 AND Male infertility
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9490 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 9494 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684047 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 11,679,997 | 26,653,790 |
| nsv4684047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 13,800,703 | 28,799,937 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215096 | copy number loss | Multiple | Multiple | Male infertility; Male infertility | Pathogenic | ClinVar | RCV001090084.1, VCV000870527.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215096 | Remapped | Good | NC_000024.10:g.(?_ 11679997)_(2665379 0_?)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 11,679,997 | 26,653,790 |
| nssv16215096 | Submitted genomic | NC_000024.9:g.(?_1 3800703)_(28799937 _?)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 13,800,703 | 28,799,937 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215096 | GRCh37: NC_000024.9:g.(?_13800703)_(28799937_?)del | copy number loss | unknown | Male infertility; Male infertility | Pathogenic | ClinVar | RCV001090084.1, VCV000870527.1 | 0 |