nsv4676181
- 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:5,918,008
- Description:GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)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: 23903 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 23867 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676181 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 58,213,045 | 64,131,052 |
| nsv4676181 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 56,788,101 | 62,762,405 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207428 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007098.1, VCV000816132.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207428 | Remapped | Good | NC_000020.11:g.(?_ 58213045)_(6413105 2_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 58,213,045 | 64,131,052 |
| nssv16207428 | Submitted genomic | NC_000020.10:g.(?_ 56788101)_(6276240 5_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 56,788,101 | 62,762,405 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207428 | GRCh37: NC_000020.10:g.(?_56788101)_(62762405_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007098.1, VCV000816132.1 | 3 |