The Database of Genomic Variants: a curated collection of structural variation in the human genome

TLDR

DGV provides a comprehensive, publicly accessible catalogue of structural variation from control genomes worldwide, supporting medical genetics and genome sequencing research. The authors describe updates and new features that broaden DGV’s utility for basic research and clinical diagnostics. DGV aggregates over 2.5 million SV entries from 55 studies and 22,300 genomes, curated from dbVar and DGVa, and offers upgraded visualization and interactive query tools. Its data are routinely integrated into large genome reference databases and serve as a standard resource for developing new products and databases, notably for copy‑number‑variation testing in clinical laboratories.

Abstract

Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations. Here, we describe updates and new features, which have expanded the utility of DGV for both the basic research and clinical diagnostic communities. The current version of DGV consists of 55 published studies, comprising >2.5 million entries identified in >22 300 genomes. Studies included in DGV are selected from the accessioned data sets in the archival SV databases dbVar (NCBI) and DGVa (EBI), and then further curated for accuracy and validity. The core visualization tool (gbrowse) has been upgraded with additional functions to facilitate data analysis and comparison, and a new query tool has been developed to provide flexible and interactive access to the data. The content from DGV is regularly incorporated into other large-scale genome reference databases and represents a standard data resource for new product and database development, in particular for copy number variation testing in clinical labs. The accurate cataloguing of variants in DGV will continue to enable medical genetics and genome sequencing research.