nsv3902548
- 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:127,187
- Description:GRCh37/hg19 10q26.3(chr10:133657703-133766057)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: 853 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 637 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3902548 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 131,825,367 | 131,952,553 |
| nsv3902548 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 133,657,703 | 133,766,057 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15171522 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000749856.2, VCV000613220.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15171522 | Remapped | Pass | NC_000010.11:g.(?_ 131825367)_(131952 553_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 131,825,367 | 131,952,553 |
| nssv15171522 | Submitted genomic | NC_000010.10:g.(?_ 133657703)_(133766 057_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 133,657,703 | 133,766,057 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15171522 | GRCh37: NC_000010.10:g.(?_133657703)_(133766057_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000749856.2, VCV000613220.2 | 3 |