Fig. 5: Variation in segmental duplications generates two of the top five genetic associations with basophil counts.
From: Protein-altering variants at copy number-variable regions influence diverse human phenotypes
a, Genome-wide associations with basophil counts. b, Associations with basophil counts at the FCGR3B locus; the colored dots are variants in partial LD (r2 > 0.01) with the FCGR3B copy number. c, Joint distribution of copy number estimates for FCGR3A and FCGR3B. d, Mean basophil count and prevalence of chronic obstructive pulmonary disease (COPD) as a function of FCGR3B copy number. e, Associations with basophil counts at the DEFA1A3 locus. PSVs within the 19-kb repeat at this locus are plotted as in Fig. 4c; the green dashed line indicates the association strength of the copy number of the 19-kb repeat. f, Histogram of the number of copies of the 19-kb repeat carrying the five-SNP haplotype represented by chr8:6993547 C>A (GRCh38 coordinates). g, Mean monocyte and basophil count as a function of copy number of the five-SNP haplotype. The error bars represent the 95% CIs. Sample sizes for blood counts are reported in Supplementary Data 1; n = 454,633 for COPD.
