nsv4674019
- 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:601,195
- Description:GRCh37/hg19 Yq11.21-11.221(chrY:14853163-15454303)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: 680 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 686 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674019 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 12,741,229 | 13,342,423 |
| nsv4674019 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 14,853,163 | 15,454,303 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207611 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007389.1, VCV000816435.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207611 | Remapped | Good | NC_000024.10:g.(?_ 12741229)_(1334242 3_?)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 12,741,229 | 13,342,423 |
| nssv16207611 | Submitted genomic | NC_000024.9:g.(?_1 4853163)_(15454303 _?)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 14,853,163 | 15,454,303 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207611 | GRCh37: NC_000024.9:g.(?_14853163)_(15454303_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001007389.1, VCV000816435.1 | 2 |