nsv3907558
- 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:25,995,649
- Description:GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 77037 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 77158 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907558 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 99,557 | 26,095,205 |
| nsv3907558 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 80,198 | 26,075,841 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161606 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000239954.2, VCV000253647.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15161606 | Remapped | Perfect | NC_000020.11:g.(?_ 99557)_(26095205_? )dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 99,557 | 26,095,205 |
| nssv15161606 | Submitted genomic | NC_000020.10:g.(?_ 80198)_(26075841_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 80,198 | 26,075,841 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161606 | GRCh37: NC_000020.10:g.(?_80198)_(26075841_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000239954.2, VCV000253647.2 | 3 |