The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer

► Genomic copy number variations (CNVs) are a consequence of genomic re-arrangement and can be recurrent or non-recurrent. ► CNVs contribute to diversity, evolution but also pathological states in humans. ► CNVs can have unanticipated effects on gene expression, not just increases/decreases of genes within the region affected. ► Mechanisms underlying CNV formation can involve DNA breakage and/or alterations in replication fork strand priming. ► CNVs incorporating DNA replication and/or the DNA damage response genes can impact on the function of those processes.