nsv6636003
- 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:44,967,307
- Description:GRCh37/hg19 Yq11.21-12(chrY:14370813-59373566)x0 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: 9628 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 9640 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636003 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 12,250,109 | 57,217,415 |
| nsv6636003 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 14,370,813 | 59,373,566 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330202 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002473934.1, VCV001808617.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330202 | Remapped | Good | NC_000024.10:g.(?_ 12250109)_(5721741 5_?)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 12,250,109 | 57,217,415 |
| nssv18330202 | Submitted genomic | NC_000024.9:g.(?_1 4370813)_(59373566 _?)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 14,370,813 | 59,373,566 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330202 | GRCh37: NC_000024.9:g.(?_14370813)_(59373566_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002473934.1, VCV001808617.1 | 0 |