nsv4454174
- 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:15,675,863
- Description:GRCh37/hg19 Yp11.31-q11.222(chrY:2650140-20619847)x2 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: 10606 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 10659 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4454174 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 2,782,099 | 18,457,961 |
| nsv4454174 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 2,650,140 | 20,619,847 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772202 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847005.2, VCV000686297.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772202 | Remapped | Pass | NC_000024.10:g.(?_ 2782099)_(18457961 _?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 2,782,099 | 18,457,961 |
| nssv15772202 | Submitted genomic | NC_000024.9:g.(?_2 650140)_(20619847_ ?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 2,650,140 | 20,619,847 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772202 | GRCh37: NC_000024.9:g.(?_2650140)_(20619847_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000847005.2, VCV000686297.2 | 2 |