nsv6315241
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,167,653
- Description:Single allele 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: 19722 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 20056 SVs from 129 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315241 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 10,115,497 | 16,283,149 | ||
| nsv6315241 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 10,175,555 | 16,609,644 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976696 | duplication | Multiple | Multiple | not specified | Likely pathogenic | ClinVar | RCV002286386.1, VCV001707471.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976696 | Submitted genomic | NC_000001.11:g.101 15497_16283149dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 10,115,497 | 16,283,149 | ||
| nssv17976696 | Remapped | Good | NC_000001.10:g.101 75555_16609644dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,175,555 | 16,609,644 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976696 | GRCh38: NC_000001.11:g.10115497_16283149dup | duplication | de novo | not specified | Likely pathogenic | ClinVar | RCV002286386.1, VCV001707471.1 |