nsv3905072
- 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:64,234,833
- Description:GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)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: 186306 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 182566 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3905072 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 82,603 | 64,317,435 |
| nsv3905072 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 63,244 | 62,948,788 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15163106 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000741058.2, VCV000604422.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15163106 | Remapped | Good | NC_000020.11:g.(?_ 82603)_(64317435_? )dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 82,603 | 64,317,435 |
| nssv15163106 | Submitted genomic | NC_000020.10:g.(?_ 63244)_(62948788_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 63,244 | 62,948,788 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15163106 | GRCh37: NC_000020.10:g.(?_63244)_(62948788_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000741058.2, VCV000604422.2 | 3 |