nsv4451989
- 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:18,189,360
- Description:GRCh37/hg19 Yp11.32-q11.222(chrY:118546-20603124)x2 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: 11778 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 11802 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451989 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 251,879 | 18,441,238 |
| nsv4451989 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 118,546 | 20,603,124 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15771931 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000845980.2, VCV000685272.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15771931 | Remapped | Pass | NC_000024.10:g.(?_ 251879)_(18441238_ ?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 251,879 | 18,441,238 |
| nssv15771931 | Submitted genomic | NC_000024.9:g.(?_1 18546)_(20603124_? )dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 118,546 | 20,603,124 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15771931 | GRCh37: NC_000024.9:g.(?_118546)_(20603124_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000845980.2, VCV000685272.2 | 2 |