nsv6290621
- 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:3,639,926
- Description:GRCh37/hg19 Yq11.223-11.23(chrY:24770885-28410810)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: 1217 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 1217 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290621 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 22,624,738 | 26,264,663 |
| nsv6290621 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 24,770,885 | 28,410,810 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957072 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001834172.1, VCV001340511.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957072 | Remapped | Perfect | NC_000024.10:g.(?_ 22624738)_(2626466 3_?)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 22,624,738 | 26,264,663 |
| nssv17957072 | Submitted genomic | NC_000024.9:g.(?_2 4770885)_(28410810 _?)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 24,770,885 | 28,410,810 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957072 | GRCh37: NC_000024.9:g.(?_24770885)_(28410810_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001834172.1, VCV001340511.1 | 0 |