dbSNP 142 Available for hg19 and hg38

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Jonathan Casper

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Feb 11, 2015, 8:01:13 PM2/11/15
to UCSC Genome Browser project announcements
We are pleased to announce the release of four tracks derived from NCBI dbSNP Build 142 data, available on the two most recent human assemblies GRCh37/hg19 and GRCh38/hg38. The new tracks contain a substantial amount of additional annotation data not included in previous dbSNP tracks, with corresponding coloring and filtering options in the Genome Browser.

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 (142)". The other three tracks are subsets of this track and show interesting and easily defined subsets of dbSNP:

Common SNPs (142): uniquely mapped variants that appear in at least 1% of the population or are 100% non-reference
Flagged SNPs (142): uniquely mapped variants, excluding Common SNPs, that have been flagged by dbSNP as "clinically associated"
Mult. SNPs (142): variants that have been mapped to more than one genomic location

By default, only the Common SNPs (142) are visible; other tracks must be made visible using the track controls. You will find the other SNPs (142) tracks on both of GRCh37/hg19 and GRCh38/hg38 browsers in the "Variation" group.

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

As always, questions and feedback may be sent to our public mailing list at genome@soe.ucsc.edu.

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Jonathan Casper
UCSC Genome Bioinformatics Group
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