nsv7148092
- 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:27,107,541
- Description:GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 75850 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 75995 SVs from 139 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148092 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 74,873,149 | 101,980,689 |
| nsv7148092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 75,165,490 | 102,520,892 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842022 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV003329502.1, VCV002580298.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842022 | Remapped | Good | NC_000015.10:g.(?_ 74873149)_(1019806 89_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 74,873,149 | 101,980,689 |
| nssv18842022 | Submitted genomic | NC_000015.9:g.(?_7 5165490)_(10252089 2_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 75,165,490 | 102,520,892 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842022 | GRCh37: NC_000015.9:g.(?_75165490)_(102520892_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV003329502.1, VCV002580298.1 | 3 |