nsv6112761
- 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:29,631,195
- Description:GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)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: 92040 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 91981 SVs from 139 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112761 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 69,779 | 29,700,973 |
| nsv6112761 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 69,671 | 29,702,595 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17649922 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001537928.4, VCV001180546.4 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17649922 | Remapped | Good | NC_000004.12:g.697 79_29700973dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,779 | 29,700,973 |
| nssv17649922 | Submitted genomic | NC_000004.11:g.696 71_29702595dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,671 | 29,702,595 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17649922 | GRCh37: NC_000004.11:g.69671_29702595dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV001537928.4, VCV001180546.4 | 3 |