nsv3919009
- 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:6,074,677
- Description:GRCh38/hg38 20p13-12.3(chr20:84402-6159078)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: 21790 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 21800 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 5449 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919009 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 84,402 | 6,159,078 |
| nsv3919009 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 65,043 | 6,139,725 |
| nsv3919009 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 13,043 | 6,087,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148916 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141348.5, VCV000152841.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148916 | Submitted genomic | NC_000020.11:g.(?_ 84402)_(6159078_?) dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 84,402 | 6,159,078 |
| nssv15148916 | Submitted genomic | NC_000020.10:g.(?_ 65043)_(6139725_?) dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 65,043 | 6,139,725 |
| nssv15148916 | Submitted genomic | NC_000020.9:g.(?_1 3043)_(6087725_?)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 13,043 | 6,087,725 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148916 | GRCh37: NC_000020.10:g.(?_65043)_(6139725_?)dup, GRCh38: NC_000020.11:g.(?_84402)_(6159078_?)dup, NCBI36: NC_000020.9:g.(?_13043)_(6087725_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141348.5, VCV000152841.3 | 3 |