Extended Data Fig. 5: Validation of FCGR3B copy number estimation.
From: Protein-altering variants at copy number-variable regions influence diverse human phenotypes
a, Left, normalized protein expression of FCGR3B for each FCGR3B copy-number state relative to CN = 2. Estimates and 95% confidence intervals were obtained from linear regression analyses of NPX values and then converted to the linear scale (2NPX). Right, distribution of normalized protein expression of FCGR3B converted to the linear scale (2NPX) for each FCGR3B copy-number state. Counts of individuals with each copy-number state are shown above the corresponding violin. Boxplots display median value (center line), hinges denote first and third quartile (25th and 75th percentile), and whiskers extend from upper (resp. lower) hinge to the largest (resp. smallest) value at most 1.5 times the interquartile range away from the hinge; all other points are considered outliers and plotted individually. b, Scatter plot of normalized WGS and WES read depths at FCGR3B for 500 UKB participants. Points are colored based on the estimated FCGR3B copy number derived from WES.
