Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals

Table 3 Frequency of R21X and LD with rs41272114 in the 1000Gph3v5 super populations

A coverage > 380× corresponds to a high accuracy variant call with single direction sequencing (single-end sequencing). A coverage > 780× corresponds to a high accuracy variant call using bidirectional confirmation (paired-end sequencing) and provides the most accurate variant calls. The rationale for these cutoffs is explained in the “Methods” section of this manuscript
Both the unfiltered data and the R21X carriers filtered for 340- and 780-fold coverage are shown
AFR Africans, AMR Admixed Americans, EAS East Asians, EUR Europeans, SAS South Asians, LD linkage disequilibrium, n number

ISSN: 1756-994X