nsv6311078
- 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:3,097,097
- Description:NC_000020.10:g.(?_31189994)_(34287210_?)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: 9340 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 9341 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6311078 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 32,602,192 | 35,699,288 |
| nsv6311078 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 31,189,994 | 34,287,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17971500 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001956104.1, VCV001457888.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17971500 | Remapped | Good | NC_000020.11:g.(?_ 32602192)_(3569928 8_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 32,602,192 | 35,699,288 |
| nssv17971500 | Submitted genomic | NC_000020.10:g.(?_ 31189994)_(3428721 0_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 31,189,994 | 34,287,210 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17971500 | GRCh37: NC_000020.10:g.(?_31189994)_(34287210_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001956104.1, VCV001457888.1 |