nsv6314010
- 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:500,242
- Description:
GRCh37/hg19 20p13(chr20:242496-742740) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2152 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 2154 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314010 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 261,855 | 762,096 |
| nsv6314010 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 242,496 | 742,740 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969232 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052696.3, VCV001526677.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969232 | Remapped | Good | NC_000020.11:g.(?_ 261855)_(762096_?) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 261,855 | 762,096 |
| nssv17969232 | Submitted genomic | NC_000020.10:g.(?_ 242496)_(742740_?) dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 242,496 | 742,740 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969232 | GRCh37: NC_000020.10:g.(?_242496)_(742740_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002052696.3, VCV001526677.3 |