50,000 new clinically relevant structural variation calls in dbVar

July 1, 2019

The National Center for Biotechnology Information (NCBI), a division of the U.S. National Library of Medicine, has expanded the catalog of clinically relevant structural variants (SV) in dbVar by adding 57,520 ClinVar records. dbVar is NCBI's database of human genomic structural variation—insertions, deletions, duplications, inversions, mobile elements, translocations, and others. The newly added data can be accessed through study nstd102. The updated collection includes:

·        20,000 new SVs, and more than 37,000 copy number variants (CNV) observed in ClinGen laboratories during routine cytogenomic laboratory testing that were previously accessioned separately at dbVar

·         15,000 SVs asserted as ‘Pathogenic’ or ‘Likely pathogenic’ for thousands of clinical genetic disorders including breast, ovarian, and colon cancers; hypercholesterolemia; schizophrenia; Duchenne Muscular Dystrophy; autism spectrum disorders; and many others

·         Links to more than 1,600 related PubMed articles and thousands of related data records in ClinVar, OMIM, GeneReviews, MedGen, MeSH, etc.

dbVar studies can be browsed through on the web or via downloading the data. NCBI has provided dbVar data in a number of standard formats (VCF, GVF, and TSV) mapped to assemblies GRCh38, GRCh37, and NCBI36 allowing performance analysis using standard tools and integrating the data into bioinformatic workflows.

Visit the Walkthrough page to learn how to use these new dbVar data to help interpret structural variation in your favored gene or genomic region.

Visit ncbiinsights.ncbi.nlm.nih.gov