We are pleased to announce the release of four tracks derived from
NCBI
dbSNP Build 146
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 (146)". The other three tracks are
subsets of this track and show interesting and easily defined
subsets of dbSNP:
- Common SNPs (146): uniquely mapped variants that appear in at
least 1% of the population or are 100% non-reference.
- Flagged SNPs (146): uniquely mapped variants, excluding Common
SNPs, that have been flagged by dbSNP as "clinically
associated".
- Mult. SNPs (146): 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 (146) are visible; other tracks
must be made visible using the track controls. You will find the
other SNPs (146) tracks on both of GRCh37/hg19 and GRCh38/hg38
browsers in the "Variation" group.
The tracks were produced at UCSC by Angie Hinrichs and Matthew
Speir. We'd like to thank the dbSNP group at NCBI for providing
access to these data.
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Matthew Speir
UCSC Genome Bioinformatics Group