University of California, Santa Cruz, Genome Browser screenshots demonstrating EXCAVATOR2-based CNV detection. (a) Y-chromosome material present in patient 14, who had TS. Black bars and blue bars indicate microarray and exome data predictions, respectively. (b) 46,X, iso(Xq) detection using simulated data. Monosomy of Xp and trisomy of Xq is indicated by red bars and blue bars, respectively.