[dbsnp-announce] dbSNP Human Build 146 Release

Public announcements regarding dbSNP dbsnp-announce at ncbi.nlm.nih.gov
Tue Nov 24 17:35:20 EST 2015


dbSNP human build 146 for both GRCh38.p2 and GRCh37.p13 assemblies is now available.

organism:     Homo sapiens
tax_id:       9606
common_name:  human
assembly:     GRCh38.p2 (GCF_000001405.28) and GRCh37p13 (GCF_000001405.25)
total_ss_cnt: 538341120
total_rs_cnt: 150482731
new_ss_cnt:   32465411
new_rs_cnt:   747354
FTP:          ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606
Entrez:       http://www.ncbi.nlm.nih.gov/snp/?term=txid9606

Release notes:
============
*  New submissions:
http://1.usa.gov/1PMLG9H

* New content:
dbSNP RefSNP page now includes allele frequency from 1000 Genomes, ExAC, and GO-ESP along with HapMap and other submitted populations.
Example: http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=693#Diversity

Population descriptions for allele frequency data.
-----------------------------------------------------------------
1000 Genomes Super Population (http://www.1000genomes.org/category/frequently-asked-questions/population)
EAS:   East Asia
EUR:  Europe
AFR:  Africa
AMR: America population
SAS:  South Asia

GO-ESP Cohort Populations (https://esp.gs.washington.edu/drupal/)

ExAC Aggregated Populations (http://exac.broadinstitute.org/faq)


* FTP data by assembly:
1. ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/
- This directory has the most current build b146 dbSNP rs (mapped to GRCh38) ftp files.

2. ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606_b146_GRCh38p2
- This directory has b146 dbSNP rs (mapped to GRCh38) ftp files.
- This directory has exactly the same set of sub-directories and files as ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/.  (In Unix speak, "snp/organisms/human_9606" is symlinked to "snp/organisms/human_9606_b146_GRCh38p2")

3. ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606_b146_GRCh37p13
- This directory has b146 dbSNP rs (mapped to GRCh37p13) ftp files
- This directory has exactly the same set of sub-directories as human_9606/human_9606_b146_GRCh38p2.


Please email snp-admin at ncbi.nlm.nih.gov for any questions and comments.
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