dbSNP 141 Available for hg19 and hg38

[Matthew Speir]

We are pleased to announce the release of four tracks derived from NCBI dbSNP Build 141 data, available on the two most recent human assembies GRCh37/hg19 and GRCh38/hg38. The new tracks contain additional annotation data not included in previous dbSNP tracks, with corresponding coloring and filtering options in the Genome Browser.

There are three SNP tracks available for the GRCh37/hg19 assembly. One is a track containing all mappings of reference SNPs to the human assembly, labeled "All SNPs (141)". The other two tracks are subsets of this track and show interesting and easily defined subsets of dbSNP:

Common SNPs (141): uniquely mapped variants that appear in at least 1% of the population or are 100% non-reference
Flagged SNPs (141): uniquely mapped variants, excluding Common SNPs, that have been flagged by dbSNP as "clinically associated"
Unlike previous dbSNP releases for GRCh37/hg19, Build 141 does not include mappings to alternate haplotype sequences. In addition, variants that map to multiple genomic locations (e.g. to different chromosomes, or more than one position on the same chromosome) have been removed.

This release also marks the first set of dbSNP data available for the newest human assembly, GRCh38/hg38. In addition to the three tracks described for hg19, there is one additional track available for hg38:

Mult. SNPs (141): variants that have been mapped to more than one genomic location
By default, only the Common SNPs (141) are visible; other tracks must be made visible using the track controls. You will find the other SNPs (141) 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.

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

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Matthew Speir
UCSC Genome Bioinformatics Group