A dataset of rare copy number variants associated with neurodevelopmental and neuropsychiatric disorders (opens in new tab)

Copy number variations (CNVs) are large structural alterations of the genome that can contribute significantly to the genetic basis of neurodevelopmental and neuropsychiatric conditions, including schizophrenia, autism spectrum disorder, and intellectual disability. Although CNVs are genomically diverse, many result in overlapping clinical features and molecular changes. We present a curated machine readable dataset, CNVPathwayAtlas, that integrates 38 pathogenic CNVs with their genomic coord...