nsv6291432
- 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:90,660,577
- Description:GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)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: 241831 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 241718 SVs from 148 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291432 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 52,000,778 | 142,661,354 |
| nsv6291432 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 52,866,944 | 143,582,507 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956560 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001827738.1, VCV001340288.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956560 | Remapped | Good | NC_000004.12:g.(?_ 52000778)_(1426613 54_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 52,000,778 | 142,661,354 |
| nssv17956560 | Submitted genomic | NC_000004.11:g.(?_ 52866944)_(1435825 07_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 52,866,944 | 143,582,507 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956560 | GRCh37: NC_000004.11:g.(?_52866944)_(143582507_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001827738.1, VCV001340288.1 | 3 |