nsv3920503
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,843,839
- Description:GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11582 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 11583 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2267 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920503 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 32,062,768 | 35,906,606 |
| nsv3920503 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 30,650,571 | 34,494,528 |
| nsv3920503 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 30,114,232 | 33,957,942 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138686 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141833.4, VCV000153447.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138686 | Submitted genomic | NC_000020.11:g.(?_ 32062768)_(3590660 6_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 32,062,768 | 35,906,606 |
| nssv15138686 | Submitted genomic | NC_000020.10:g.(?_ 30650571)_(3449452 8_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 30,650,571 | 34,494,528 |
| nssv15138686 | Submitted genomic | NC_000020.9:g.(?_3 0114232)_(33957942 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 30,114,232 | 33,957,942 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138686 | GRCh37: NC_000020.10:g.(?_30650571)_(34494528_?)dup, GRCh38: NC_000020.11:g.(?_32062768)_(35906606_?)dup, NCBI36: NC_000020.9:g.(?_30114232)_(33957942_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141833.4, VCV000153447.2 | 3 |