Question: List of CNV (copy number variation) regions in the human genome
1
gravatar for abascalfederico
2.4 years ago by
abascalfederico1.0k
Spain
abascalfederico1.0k wrote:

Does anyone know where could I find a comprehensive list of human CNV regions? I am working with 1000G variants and want to filter out variants within CNV regions, to see whether some pattern change or not.

Thanks,

Federico

 

cnv human genome • 2.2k views
ADD COMMENTlink modified 2.4 years ago by trausch1.0k • written 2.4 years ago by abascalfederico1.0k
6
gravatar for trausch
2.4 years ago by
trausch1.0k
Germany
trausch1.0k wrote:

The 1000 Genomes Consortium recently published an integrated SV/CNV map for the 1000 Genomes phase 3 data:

http://www.nature.com/nature/journal/v526/n7571/full/nature15394.html

As a VCF file:

ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/phase3/integrated_sv_map/ALL.wgs.integrated_sv_map_v2.20130502.svs.genotypes.vcf.gz

Alternatively, Decipher also has a population CNV map in tab-delimited format:

https://decipher.sanger.ac.uk/files/downloads/population_cnv.txt.gz

 

ADD COMMENTlink written 2.4 years ago by trausch1.0k
1

This is really helpful. Thank you!

I have also found the 1000G accessibility genome masks, which may help to retain only high quality variants: ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/phase1/analysis_results/supporting/accessible_genome_masks/README_20120824_accessibility_mask_bed_files

 

ADD REPLYlink written 2.4 years ago by abascalfederico1.0k
Please log in to add an answer.

Help
Access

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 2.3.0
Traffic: 914 users visited in the last hour