nsv4684046
- 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:4,369,447
- Description:GRCh37/hg19 Yp11.31-11.2(chrY:2650140-7019586)x1 AND Sex reversal
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2193 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 2193 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684046 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 2,782,099 | 7,151,545 |
| nsv4684046 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 2,650,140 | 7,019,586 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215071 | copy number gain | Multiple | Multiple | Sex reversal; Sex reversal | Pathogenic | ClinVar | RCV001090074.1, VCV000870517.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215071 | Remapped | Perfect | NC_000024.10:g.(?_ 2782099)_(7151545_ ?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 2,782,099 | 7,151,545 |
| nssv16215071 | Submitted genomic | NC_000024.9:g.(?_2 650140)_(7019586_? )dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 2,650,140 | 7,019,586 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215071 | GRCh37: NC_000024.9:g.(?_2650140)_(7019586_?)dup | copy number gain | unknown | Sex reversal; Sex reversal | Pathogenic | ClinVar | RCV001090074.1, VCV000870517.1 | 1 |