nsv7095546
- 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:580,423
- Description:NC_000020.10:g.(?_17587682)_(18168103_?)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: 1711 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1712 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095546 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 17,607,037 | 18,187,459 |
| nsv7095546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 17,587,682 | 18,168,103 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787965 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003122983.2, VCV002427149.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787965 | Remapped | Perfect | NC_000020.11:g.(?_ 17607037)_(1818745 9_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 17,607,037 | 18,187,459 |
| nssv18787965 | Submitted genomic | NC_000020.10:g.(?_ 17587682)_(1816810 3_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 17,587,682 | 18,168,103 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787965 | GRCh37: NC_000020.10:g.(?_17587682)_(18168103_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003122983.2, VCV002427149.2 |