nsv4451941
- 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:43,256,072
- Description:GRCh37/hg19 Yq11.221-12(chrY:16053146-59343488)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: 8368 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 8378 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451941 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 13,941,266 | 57,197,337 |
| nsv4451941 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 16,053,146 | 59,343,488 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772645 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848067.2, VCV000687368.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772645 | Remapped | Good | NC_000024.10:g.(?_ 13941266)_(5719733 7_?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 13,941,266 | 57,197,337 |
| nssv15772645 | Submitted genomic | NC_000024.9:g.(?_1 6053146)_(59343488 _?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 16,053,146 | 59,343,488 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772645 | GRCh37: NC_000024.9:g.(?_16053146)_(59343488_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000848067.2, VCV000687368.2 | 2 |