nsv3892750
- 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:64,247,339
- Description:GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)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: 186380 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 182640 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3892750 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 82,603 | 64,329,941 |
| nsv3892750 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 63,244 | 62,961,294 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15163386 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000741059.2, VCV000604423.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15163386 | Remapped | Good | NC_000020.11:g.(?_ 82603)_(64329941_? )dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 82,603 | 64,329,941 |
| nssv15163386 | Submitted genomic | NC_000020.10:g.(?_ 63244)_(62961294_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 63,244 | 62,961,294 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15163386 | GRCh37: NC_000020.10:g.(?_63244)_(62961294_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000741059.2, VCV000604423.2 | 3 |