nsv4684020
- 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:9,540,789
- Description:GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)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: 7020 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 7030 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684020 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 12,383,237 | 21,924,025 |
| nsv4684020 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 14,495,040 | 24,070,172 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215069 | copy number loss | Multiple | Multiple | Male infertility; Male infertility | Pathogenic | ClinVar | RCV001090078.1, VCV000870521.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215069 | Remapped | Good | NC_000024.10:g.(?_ 12383237)_(2192402 5_?)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 12,383,237 | 21,924,025 |
| nssv16215069 | Submitted genomic | NC_000024.9:g.(?_1 4495040)_(24070172 _?)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 14,495,040 | 24,070,172 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215069 | GRCh37: NC_000024.9:g.(?_14495040)_(24070172_?)del | copy number loss | unknown | Male infertility; Male infertility | Pathogenic | ClinVar | RCV001090078.1, VCV000870521.1 | 0 |