nsv4676293
- 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:736,938
- Description:GRCh37/hg19 20p12.3(chr20:7374347-8111284)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: 2118 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 2118 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676293 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 7,393,700 | 8,130,637 |
| nsv4676293 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 7,374,347 | 8,111,284 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207416 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001007078.1, VCV000816112.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207416 | Remapped | Perfect | NC_000020.11:g.(?_ 7393700)_(8130637_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 7,393,700 | 8,130,637 |
| nssv16207416 | Submitted genomic | NC_000020.10:g.(?_ 7374347)_(8111284_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 7,374,347 | 8,111,284 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207416 | GRCh37: NC_000020.10:g.(?_7374347)_(8111284_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001007078.1, VCV000816112.1 | 3 |