nsv6636691
- 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:2,367,110
- Description:
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1 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: 12227 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 12082 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636691 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,454 | 2,435,563 |
| nsv6636691 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 68,346 | 2,437,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330792 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472653.1, VCV001807847.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330792 | Remapped | Good | NC_000004.12:g.(?_ 68454)_(2435563_?) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,454 | 2,435,563 |
| nssv18330792 | Submitted genomic | NC_000004.11:g.(?_ 68346)_(2437290_?) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 68,346 | 2,437,290 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330792 | GRCh37: NC_000004.11:g.(?_68346)_(2437290_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472653.1, VCV001807847.1 | 1 |