dbSNP 147 Available for hg19 and hg38

[Christopher Lee]

We are pleased to announce the release of four tracks derived from NCBI dbSNP Build 147 data, available on the two most recent human assemblies GRCh37/hg19 and GRCh38/hg38. NCBI's dbSNP database is a collection of "simple nucleotide polymorphisms" (SNPs), which are a class of genetic variations that include single nucleotide polymorphisms and small insertions/deletions (indels). This immense database contains over 150 million such SNPs that cover the human genome.

There are four SNP tracks available as part of this release. One is a track containing all mappings of reference SNPs to the human assembly, labeled "All SNPs (147)". The other three tracks are subsets of this track and show interesting and easily defined subsets of dbSNP:

• Common SNPs (147): uniquely mapped variants that appear in at least 1% of the population or are 100% non-reference.
• Flagged SNPs (147): uniquely mapped variants, excluding Common SNPs, that have been flagged by dbSNP as "clinically associated".
• Mult. SNPs (147): variants that have been mapped to more than one genomic location. This track has been shrinking over the course of the last few releases as dbSNP now excludes most SNPs whose flanking sequences map to multiple locations in the genome.
  

By default, only the Common SNPs (147) are visible; other tracks must be made visible using the track controls. You will find the other SNPs (147) tracks on both of GRCh37/hg19 and GRCh38/hg38 browsers in the "Variation" group.

The tracks were produced at UCSC by Angie Hinrichs and Christopher Lee. We'd like to thank the dbSNP group at NCBI for providing access to these data.

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Christopher Lee
UCSC Genome Bioinformatics Group