nsv6314173
- 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:258,608
- Description:GRCh37/hg19 15q15.1(chr15:41194121-41452728) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 801 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 801 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314173 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 40,901,923 | 41,160,530 |
| nsv6314173 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 41,194,121 | 41,452,728 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969000 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052464.3, VCV001526445.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969000 | Remapped | Perfect | NC_000015.10:g.(?_ 40901923)_(4116053 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 40,901,923 | 41,160,530 |
| nssv17969000 | Submitted genomic | NC_000015.9:g.(?_4 1194121)_(41452728 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 41,194,121 | 41,452,728 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969000 | GRCh37: NC_000015.9:g.(?_41194121)_(41452728_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002052464.3, VCV001526445.3 |