nsv3922038
- 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:5,366,753
- Description:GRCh38/hg38 20p13-12.3(chr20:80927-5447679)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: 19046 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 19054 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 4790 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922038 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 80,927 | 5,447,679 |
| nsv3922038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,568 | 5,428,325 |
| nsv3922038 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 9,568 | 5,376,325 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148197 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142285.4, VCV000154176.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148197 | Submitted genomic | NC_000020.11:g.(?_ 80927)_(5447679_?) dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 80,927 | 5,447,679 |
| nssv15148197 | Submitted genomic | NC_000020.10:g.(?_ 61568)_(5428325_?) dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,568 | 5,428,325 |
| nssv15148197 | Submitted genomic | NC_000020.9:g.(?_9 568)_(5376325_?)du p | NCBI36 (hg18) | NC_000020.9 | Chr20 | 9,568 | 5,376,325 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148197 | GRCh37: NC_000020.10:g.(?_61568)_(5428325_?)dup, GRCh38: NC_000020.11:g.(?_80927)_(5447679_?)dup, NCBI36: NC_000020.9:g.(?_9568)_(5376325_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000142285.4, VCV000154176.2 | 3 |