nsv7098897
- 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:24,034,946
- Description:GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 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: 60941 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 61086 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098897 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 67,066,153 | 91,101,098 |
| nsv7098897 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 67,358,491 | 91,644,328 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18792793 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003222839.2, VCV002498630.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792793 | Remapped | Good | NC_000015.10:g.(?_ 67066153)_(9110109 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 67,066,153 | 91,101,098 |
| nssv18792793 | Submitted genomic | NC_000015.9:g.(?_6 7358491)_(91644328 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 67,358,491 | 91,644,328 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18792793 | GRCh37: NC_000015.9:g.(?_67358491)_(91644328_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV003222839.2, VCV002498630.3 | 3 |