CNV

Understanding Human Structural Variation in Disease

Genetic variation is what makes each human being unique, and determines our susceptibility to diseases. In recent years, researchers have utilized SNPs for the identification of genetic markers for complex and common diseases; however this approach has only revealed part of the picture. Copy Number Variants (CNVs) are reshaping our understanding of the genetics of a growing list of diseases. Using array-based comparative genomic hybridization (aCGH) techniques, CNVs at multiple loci can be assessed simultaneously, allowing for their identification and characterization. CNV microarrays allow exploration of the genome for sources of variability beyond SNPs, giving researchers new insight into the full impact of genomic variation.

Learn more about Copy Number Variation in the new Nature Genetics CNV compendium