RELEASE: NCBI dbSNP Build 135 for human dbSNP Build 135 for human (txid 9606) =================================== This release is based on NCBI human genome build 37.3 that included assembly changes described here (http://1.usa.gov/fIk86S) and include new submissions from 1000 Genomes Project Phase I release (http://1.usa.gov/rhf62b). dbSNP Handle ss_cnt rs_cnt ------------ ------- ------- 1000GENOMES* 57911353 39484957 *Includes Pilot 1,2,3 and Phase I June 2011 release (http://bit.ly/q8a5Wy) Build Summary ------------- organism: Homo sapiens tax_id: 9606 total_ss: 178,140,838 total_rs: 52,345,594 new_ss(since b134 release on Aug.8, 2011): 167,018 new_rs(since b134 release on Aug.8, 2011): 12,632,872 Component availability dates: Component Date available dbSNP web query October 13, 2011 BLAST databases October 24, 2011 (estimated) FTP data October 24, 2011 (estimated) Entrez Search October 24, 2011 (estimated) * All formats and conventions are described in ftp.ncbi.nih.gov/snp/00readme.txt. Please note that the README document is updated periodically. * The complete data for build 135 will be available in multiple formats by organisms at ftp://ftp.ncbi.nih.gov/snp/organisms/ * The complete build summary for build 135 is available at:www.ncbi.nlm.nih.gov/SNP/snp_summary.cgi Important updates and new features: 1) About dbSNP: Content in dbSNP is not limited to single nucleotide polymorphisms (SNPs), but stores information about multiple small-scale variations that include insertions/deletions, microsatellites, and non-polymorphic variants. dbSNP also stores common and rare variations along with their genotypes and allele frequencies. Most importantly, dbSNP includes clinically significant human variations as well as benign polymorphisms. dbSNP also aggregates user assertions for these variations, including its clinical assertion, minor allele frequencies, the likelihood that the variation is a false positive, and whether the allele origin is germline or somatic. For detail descriptions, please visit the following site: (http://www.ncbi.nlm.nih.gov/projects/SNP/docs/rs_attributes.html). 2) New Feature: Filtered VCF files dbSNP is preparing specially filtered VCF data files to provide reasonable subsets of dbSNP selected to act as surrogates for 'polymorphic' or 'rare' variants. These subsets are defined using minor allele frequencies (MAF) and sources (http://1.usa.gov/qWA9oE), and the individual files include the following: 1) MAF > 0.01 based on 1000 Genomes populations, 2) MAF > 0.01 for any population submitted to dbSNP, 3) MAF > 0.01 for all populations submitted to dbSNP. A separate announcement will be sent when these files are available on the FTP site (ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/VCF/v4.0/) for dbSNP human Build 135 in a few weeks. 3) Known Issues: Due to the volume of data, 1000Genomes genotype is not loaded directly to dbSNP so it's not reported in "new ss/rs with genotype" count. However, the global minor allele frequency (MAF) will be calculated and included with the build release (http://1.usa.gov/pVHRaA). The genotype data can be download directly from 1000Genomes FTP site (http://www.1000genomes.org/data). dbSNP Production Team October 13, 2011 National Center for Biotechnology Information (NCBI) National Library of Medicine, National Institutes of Health, Bethesda, MD, USA. RSS: http://www.ncbi.nlm.nih.gov/feed/rss.cgi?ChanKey=dbsnpnews Help Desk: snp-admin@ncbi.nlm.nih.gov