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Association of a multiallelic CNV involving deletion and duplication alleles with gene expression. (A) A multiallelic CNV (chr22:18,763,501–18,789,830) entirely overlapping the PI4KAP1 gene locus was found to be significantly associated with PI4KAP1 expression. (B) Correlations between copy-number genotype and normalized gene expression values for PI4KAP1 (YRI samples). (C) Summary of observed sample abundance and median normalized expression value for each copy-number state.
