Category Archives: dbVar
NCBI Presents Two Online CoLabs at ASHG 2020!
Two up-and-coming NCBI resources will be featured in videos, surveys and live events at the American Society for Human Genetics (ASHG) 2020 Annual Meeting. Come and watch on-demand videos in the CoLab Theater. Then, let us know what you think and how you do or might use these resources by either taking an online survey … Continue reading NCBI Presents Two Online CoLabs at ASHG 2020!
dbVar clinical and common structural variants track hub now available
dbVar, NCBI’s database of large-scale genetic variants, has a new track hub for viewing and downloading structural variation (SV) data in popular genome browsers. Initial tracks include Clinical and Common SV datasets. dbVar’s new track hub can be viewed using … Continue reading
Posted by in dbVar, GDV, Genome Browser, Track Hubs, Variation, What's New
Genome in a Bottle Structural Variants released in dbVar
The latest dbVar data release includes the Genome in a Bottle benchmark structural variant (SV) callset (pre-print Zook et al. 2019) – a highly scrutinized, carefully curated set of 12,745 sequence-resolved deletions, insertions, and delins variants from Personal Genome Project … Continue reading
Posted by in dbVar, Genome in a Bottle, NCBI research, What's New
50,000 new clinically relevant structural variation calls in dbVar
We’ve expanded the catalog of clinically relevant structural variants (SV) in dbVar by adding 57,520 ClinVar records. You can access the newly added data 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 … … Continue reading
Posted by in ClinVar, dbVar, Variation, What's New
NCBI dbVar releases updated human reference structural variation (SV) data files and tutorials
Would you like to compare and analyze your data with known structural variants (SV) in NCBI’s database of genomic structural variation (dbVar)? Now there are easy-to-use files containing non-redundant (NR) deletions, duplications, and insertions aggregated from across studies in dbVar. … Continue reading
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dbVar now provides easy-to-use human non-redundant SV reference datasets to aid the interpretation of structural variants
dbVar non-redundant SV (NR SV) datasets include more than 2.2 million deletions, 1.1 million insertions, and 300,000 duplications. These data are aggregated from over 150 studies including 1000 Genomes Phase 3, Simons Genome Diversity Project, ClinGen, ExAC, and others. You … Continue reading
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Standalone variation services replace Variation Reporter
As of July 2018, a new set of standalone variation services replaces the variant matching functions of Variation Reporter. Variation Reporter was a tool designed to search human sequence variation data by location and to report matching variants found in … Continue reading
dbVar Structural Variation Non-redundant Reference Sets (Alpha) Release
dbVar has generated known structural variants (SV) datasets for use in comparisons with user data to aid variant calling, analysis and interpretation. Files containing Non-Redundant (NR) deletions, insertions, and duplications are now available on GitHub. Additional separate files include preliminary … Continue reading
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New dbVar FTP Directory Structure
NCBI’s database of structural variation, dbVar has a restructured FTP directory. The old directories can be found in archive. Highlights include: added aggregated vcf files by assembly named files based on major assembly and region or call replaced study-specific directories with file-type directories renamed … Continue reading
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RefSeq release 85 is now public
RefSeq release 85 is now accessible online, via FTP and through NCBI’s programming utilities. This full release incorporates genomic, transcript, and protein data available, as of November 6, 2017, and contains 146,710,309 records, including 100,043,962 proteins, 20,905,608 RNAs, and sequences … Continue reading 
Posted by in dbSNP, dbVar, RefSeq, What's New