nsv4453832
- 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:7,775,885
- Description:GRCh37/hg19 Yq11.222-11.23(chrY:21039792-28799937)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: 5069 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 5066 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4453832 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 18,877,906 | 26,653,790 |
| nsv4453832 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 21,039,792 | 28,799,937 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775232 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847006.2, VCV000686298.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775232 | Remapped | Good | NC_000024.10:g.(?_ 18877906)_(2665379 0_?)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 18,877,906 | 26,653,790 |
| nssv15775232 | Submitted genomic | NC_000024.9:g.(?_2 1039792)_(28799937 _?)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 21,039,792 | 28,799,937 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775232 | GRCh37: NC_000024.9:g.(?_21039792)_(28799937_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000847006.2, VCV000686298.2 | 0 |