Closed whitneywhitford closed 7 years ago
DGV Gold standard CNVs
X = 1728 CNVs Y = 99 CNVs 19 = 3075 CNVs
co-ordinates for GRCh37 from 2016-05-15 release
CNVRs (overlapping CNV regions, both del and dup) X = 1285 CNVs, 3670595 bp (0.024 of chromosome) Y = 50 CNVs, 2981059 bp (0.052 of chromosome) 19 = 1593 CNVs, 50635920 bp (0.794 of chromosome)
BED file can be found https://github.com/hackseq/2016_project_6/blob/master/Files/DGV_XY19goldstd_mergedGRCh37.bed
NCBI remap used to convert DGV gold standard GRCh37 CNV coordinates to GRCh38
https://github.com/hackseq/2016_project_6/blob/master/Files/DGV/DGV_XY19goldstd_mergedGRCh38.bed
All DGV CNVs
X = 9170 CNVs Y = 1288 CNVs 19 = 12,175 CNVs
co-ordinates for GRCh38 from 2016-05-15 release http://dgv.tcag.ca/dgv/app/downloads?ref=
CNVRs (overlapping CNV regions, both del and dup) using bedtools (v 2.25.0) mergeBed X = 1422 CNVs, 107273677 bp (0.687 of chromosome) Y = 94 CNVs, 19087394 bp (0.334 of chromosome) 19 = 392 CNVs, 50635920 bp (0.863 of chromosome)
BED file can be found https://github.com/hackseq/2016_project_6/blob/master/Files/DGV_XY19all_mergedGRCh38.bed