The ClinGen Structural Variants dataset displays curated copy number variants (CNVs) with sufficient evidence supporting (pathogenic) or refuting (benign) dosage sensitivity as a mechanism for disease from the dbVar study nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted). Dosage sensitivity has been reviewed in an evidence-based manner by the ClinGen Structural Variation Working Group as described in Riggs et al. 2012. See Variant Summary counts for nstd45 in dbVar Variant Summary.
-Items are shaded according to variant type, red for CNV loss, +Items are shaded according to variant type, red for CNV loss, blue for CNV gain. Mouseover on items indicates affected protein-coding genes, size of the variant, variant type (gain, loss), and associated phenotype. When more than 2 genes are affected by a variant, the full list can be obtained by clicking on the item and reading the details page.
All tracks can be filtered according to the size of the variant, variant type, and clinical significance.
The raw data can be explored interactively with the Table Browser, or the Data Integrator. For automated analysis, the data may be queried from our REST API. Please refer to our