nsv7095551
- 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:840,665
- Description:NC_000020.10:g.(?_3063276)_(3903941_?)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: 3165 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 3166 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095551 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 3,082,630 | 3,923,294 |
| nsv7095551 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 3,063,276 | 3,903,941 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787629 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003122630.2, VCV002426797.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787629 | Remapped | Perfect | NC_000020.11:g.(?_ 3082630)_(3923294_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 3,082,630 | 3,923,294 |
| nssv18787629 | Submitted genomic | NC_000020.10:g.(?_ 3063276)_(3903941_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 3,063,276 | 3,903,941 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787629 | GRCh37: NC_000020.10:g.(?_3063276)_(3903941_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003122630.2, VCV002426797.2 |