Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk
Figure 2
Prioritization of copy number variations of interest.
Structural variants were first assessed to determine whether they were present in our control individuals or the Database of Genomic Variants. Literature searches were then performed to determine if the CNVs we identified were previously reported as ASD regions with similar breakpoints or overlay with larger ASD reported regions. Higher priority was given to variation absent in controls and those that fell within regions previously connected to ASDs. Low frequency CNVs were identified in our control HIHG and NBC dataset, but at a frequency below 1.5%. Duplications are in green and deletions are in red.