nsv6314745
- 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:23,871,125
- Description:GRCh37/hg19 Yp11.31-q11.23(chrY:2650424-28799654) 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: 15544 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 15596 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314745 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 2,782,383 | 26,653,507 |
| nsv6314745 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 2,650,424 | 28,799,654 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976061 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002221453.2, VCV001676302.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976061 | Remapped | Pass | NC_000024.10:g.(27 82383_?)_(?_266535 07)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 2,782,383 | 26,653,507 |
| nssv17976061 | Submitted genomic | NC_000024.9:g.(265 0424_?)_(?_2879965 4)del | GRCh37 (hg19) | NC_000024.9 | ChrY | 2,650,424 | 28,799,654 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976061 | GRCh37: NC_000024.9:g.(2650424_?)_(?_28799654)del | copy number loss | de novo | not provided | Pathogenic | ClinVar | RCV002221453.2, VCV001676302.2 |