nsv4684045
- 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:3,696,931
- Description:GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28341390)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: 1165 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 1165 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684045 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 22,498,313 | 26,195,243 |
| nsv4684045 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 24,644,460 | 28,341,390 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215074 | copy number loss | Multiple | Multiple | Male infertility; Male infertility | Pathogenic | ClinVar | RCV001090070.1, VCV000870513.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215074 | Remapped | Perfect | NC_000024.10:g.(?_ 22498313)_(2619524 3_?)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 22,498,313 | 26,195,243 |
| nssv16215074 | Submitted genomic | NC_000024.9:g.(?_2 4644460)_(28341390 _?)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 24,644,460 | 28,341,390 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215074 | GRCh37: NC_000024.9:g.(?_24644460)_(28341390_?)del | copy number loss | unknown | Male infertility; Male infertility | Pathogenic | ClinVar | RCV001090070.1, VCV000870513.1 | 0 |