The complexity of genomic structural variation in neurodevelopmental disorders

摘要

Interest in—and understanding of the importance of—de novo structural variation in the human genome has increased alongside the accessibility of the technologies capable of identifying it. Copy number variation (CNV) is a catch-all term for sections of the genome ranging from 1 kb to many mega-bases, which vary in cardinality between individual genomes. Although CNVs are now a particularly well-studied form of structural variation, understanding of the impact of such variants on phenotype is still nascent, especially when compared with understudying of the phenotypic effects of some classes of single nucleotide polymorphisms.