ABSTRACT
DNA copy number variations (CNVs) occur in the genome due to spontaneous and induced gains, losses, and/or insertions of 50 bp to several Mb long DNA segments leading to copy number changes of a particular DNA sequence within the chromosomes. Mounting evidence demonstrates the importance of de novo CNVs as a source of genomic variation and in development of pathogenic conditions. There are several databases for CNVs of which the “Database of Genomic Variants” is the largest host for data of structural variations in healthy subjects from worldwide populations. The recently developed database CNV ntegrate is hosting data from both healthy persons and cancer patients, and enables comparisons of CNV frequencies within multiple ethnic populations. Mounting evidence demonstrates the role of CNVs in various pathological conditions including severe intellectual disability, autism, schizophrenia, cardiovascular diseases, and cancer.
