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welcome to the introduction to copy number variation with droplet digital pcr instructional module my name is frank biswarn and im part of the digital biology group of biorad laboratories as many of you know genes that are expected to occur in two copies per genome can sometimes be found present in one three or more copies in few rare instances the genes are missing altogether copy number variations often result in too few or too many dose-sensitive genes being present thereby being responsible for phenotypic variability complex behavioral traits and certain diseases structural variants typically found include the deletion of one or multiple copies of the gene duplications of part of the chromosome trisomys monosomies and partial monosomies to determine copy number variations within the cell population the number of copies of the gene of interest is quantified and compared to the number of copies of a reference gene of known quantity a reference gene is used to determine the number o
