Copy number variants (CNV), among which are included deletions, insertions and other forms of structural mutations, have received much less attention in genetic analysis than single nucleotide exchanges. Our project aims at detecting and characterizing such mutations in gene families. Several methods are used for their detection, including qPCR and long range PCR. Detected variants are further analyzed with respect to population frequency, number of origins, and age of mutations. At present we are investigating the KLK, WAP and chemokine gene families.