Evolutionary History of Human Copy-Number Variation & Global Diversity

Single nucleotide variants (SNVs) have been the primary focus of the research on diversity across modern human genomes. A recent study published in Science takes a different approach, by exploring the evolutionary history of the selective processes acting on copy-number variants (CNVs). 

Via the sequencing of numerous human genomes from 125 globally distributed populations, the researchers are able to reconstruct the ancestral human genome, and examine how CNV variation contributes to population stratification. Among other results, the researchers found that relative to groups within Africa, non-African populations have more basepairs affected by CNVs than SNVs.