This track displays common copy number genomic variations from nstd186 (NCBI Curated Common Structural Variants), divided into subtracks according to population and source of original submission.
This curated dataset of all structural variants in dbVar includes variants from gnomAD, 1000 Genomes Phase 3, and DECIPHER (dbVar studies nstd166, estd219, and nstd183, respectively).
It only includes copy number gain, copy number loss, copy number variation, duplications, and deletions (including mobile element deletions), that are part of a study with at least 100 samples, include allele frequency data, and have an allele frequency of >=0.01 in at least one population.
For more information on the number of variant calls and latest statistics for nstd186 see Summary of nstd186 (NCBI Curated Common Structural Variants).
There are six subtracks in this track set:
Mouseover on items indicates genes affected, size, variant type, and allele frequencies (AF). All tracks can be filtered according to the Variant Size and Variant Type.
The data can also be found directly from the dbVar nstd186 data access, as well as in the dbVar Track Hub, where additional subtracks are included. For questions about dbVar track data, please contact dbvar@ncbi.nlm.nih.gov .
Thanks to the dbVAR team at NCBI, especially John Lopez and Timothy Hefferon for technical coordination and consultation, and to Christopher Lee, Anna Benet-Pages, and Daniel Schmelter, of the Genome Browser team for engineering the track display.
Lappalainen I, Lopez J, Skipper L, Hefferon T, Spalding JD, Garner J, Chen C, Maguire M, Corbett M, Zhou G et al. DbVar and DGVa: public archives for genomic structural variation. Nucleic Acids Res. 2013 Jan;41(Database issue):D936-41. PMID: 23193291; PMC: PMC3531204