nsv4349190
- 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:26,243,917
- Description:GRCh37/hg19 20p13-11.1(chr20:61568-26305479)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: 78756 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 78894 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349190 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 80,927 | 26,324,843 |
| nsv4349190 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,568 | 26,305,479 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207408 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007068.1, VCV000816102.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207408 | Remapped | Perfect | NC_000020.11:g.(?_ 80927)_(26324843_? )dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 80,927 | 26,324,843 |
| nssv16207408 | Submitted genomic | NC_000020.10:g.(?_ 61568)_(26305479_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,568 | 26,305,479 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207408 | GRCh37: NC_000020.10:g.(?_61568)_(26305479_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007068.1, VCV000816102.1 | 3 |