nsv4681131
- 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:273,388
- Description:NC_000010.11:g.(?_89338661)_(89612048_?)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: 574 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 574 SVs from 49 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4681131 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 89,338,661 | 89,612,048 |
nsv4681131 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 91,098,418 | 91,371,805 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16213461 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001031694.1, VCV000831108.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16213461 | Remapped | Perfect | NC_000010.11:g.(?_ 89338661)_(8961204 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 89,338,661 | 89,612,048 |
nssv16213461 | Submitted genomic | NC_000010.10:g.(?_ 91098418)_(9137180 5_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 91,098,418 | 91,371,805 |
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 |
---|---|---|---|---|---|---|---|
nssv16213461 | GRCh37: NC_000010.10:g.(?_91098418)_(91371805_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001031694.1, VCV000831108.1 |