nsv4682831
- 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:169,447
- Description:NC_000001.11:g.(?_212782372)_(212951818_?)del 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: 869 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 871 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682831 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 212,782,372 | 212,951,818 |
| nsv4682831 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 212,955,714 | 213,125,160 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214673 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001032942.6, VCV000832455.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214673 | Remapped | Perfect | NC_000001.11:g.(?_ 212782372)_(212951 818_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,782,372 | 212,951,818 |
| nssv16214673 | Submitted genomic | NC_000001.10:g.(?_ 212955714)_(213125 160_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 212,955,714 | 213,125,160 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214673 | GRCh37: NC_000001.10:g.(?_212955714)_(213125160_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001032942.6, VCV000832455.6 |