nsv3883791
- 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:189,944,940
- Description:GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)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: 539483 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 539368 SVs from 154 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3883791 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 49,556 | 189,994,495 |
| nsv3883791 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 49,450 | 190,915,650 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15165480 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000743155.2, VCV000606519.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15165480 | Remapped | Good | NC_000004.12:g.(?_ 49556)_(189994495_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 49,556 | 189,994,495 |
| nssv15165480 | Submitted genomic | NC_000004.11:g.(?_ 49450)_(190915650_ ?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 49,450 | 190,915,650 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15165480 | GRCh37: NC_000004.11:g.(?_49450)_(190915650_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000743155.2, VCV000606519.2 | 3 |