PMP22 and 22q11.2 deletion syndrome: CNVs contribute to genome diversity in the human population [2] and are also associated with an abundance of human disorders [3], such as DiGeorge syndrome (OMIM# 188400) caused by a 1.5- to 3.0-Mb heterozygous deletion of chromosome 22 in band q11.2, and Charcot–Marie–Tooth disease, type 1A (OMIM# 118220) due to duplication or mutation in the gene-encoding peripheral myelin protein-22 (PMP22; 601097) in 17p12.