nsv4457806
- 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:5,213,745
- Description:GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 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: 15026 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 15018 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457806 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 31,245,805 | 36,459,549 |
| nsv4457806 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 29,833,608 | 35,087,952 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773495 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849735.2, VCV000689044.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773495 | Remapped | Good | NC_000020.11:g.(?_ 31245805)_(3645954 9_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 31,245,805 | 36,459,549 |
| nssv15773495 | Submitted genomic | NC_000020.10:g.(?_ 29833608)_(3508795 2_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 29,833,608 | 35,087,952 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773495 | GRCh37: NC_000020.10:g.(?_29833608)_(35087952_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000849735.2, VCV000689044.2 | 3 |