nsv4673949
- 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:26,351,912
- Description:GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28799937)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: 16649 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 16672 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673949 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 301,879 | 26,653,790 |
| nsv4673949 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 168,546 | 28,799,937 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207603 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007377.1, VCV000816423.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207603 | Remapped | Pass | NC_000024.10:g.(?_ 301879)_(26653790_ ?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 301,879 | 26,653,790 |
| nssv16207603 | Submitted genomic | NC_000024.9:g.(?_1 68546)_(28799937_? )dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 168,546 | 28,799,937 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207603 | GRCh37: NC_000024.9:g.(?_168546)_(28799937_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007377.1, VCV000816423.1 | 2 |