nsv4452235
- 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:38,316,943
- Description:GRCh37/hg19 Yq11.222-12(chrY:21035530-59336737)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: 5892 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 5896 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4452235 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 18,873,644 | 57,190,586 |
| nsv4452235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 21,035,530 | 59,336,737 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774487 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000845979.2, VCV000685271.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774487 | Remapped | Good | NC_000024.10:g.(?_ 18873644)_(5719058 6_?)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 18,873,644 | 57,190,586 |
| nssv15774487 | Submitted genomic | NC_000024.9:g.(?_2 1035530)_(59336737 _?)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 21,035,530 | 59,336,737 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774487 | GRCh37: NC_000024.9:g.(?_21035530)_(59336737_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000845979.2, VCV000685271.2 | 0 |