nsv4674682
- 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:8,857,036
- Description:GRCh37/hg19 Yq11.221-11.23(chrY:19567361-28458663)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: 4955 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 4957 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674682 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 17,455,481 | 26,312,516 |
| nsv4674682 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 19,567,361 | 28,458,663 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207616 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001007396.2, VCV000816442.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207616 | Remapped | Good | NC_000024.10:g.(?_ 17455481)_(2631251 6_?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 17,455,481 | 26,312,516 |
| nssv16207616 | Submitted genomic | NC_000024.9:g.(?_1 9567361)_(28458663 _?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 19,567,361 | 28,458,663 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207616 | GRCh37: NC_000024.9:g.(?_19567361)_(28458663_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001007396.2, VCV000816442.2 | 2 |