nsv6291428
- 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:14,486,457
- Description:GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)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: 35593 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 35622 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291428 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 94,569,604 | 109,056,060 |
| nsv6291428 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 95,490,755 | 109,977,216 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956567 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001827745.1, VCV001340302.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956567 | Remapped | Perfect | NC_000004.12:g.(?_ 94569604)_(1090560 60_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 94,569,604 | 109,056,060 |
| nssv17956567 | Submitted genomic | NC_000004.11:g.(?_ 95490755)_(1099772 16_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 95,490,755 | 109,977,216 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956567 | GRCh37: NC_000004.11:g.(?_95490755)_(109977216_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001827745.1, VCV001340302.1 | 3 |