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Rearrangement, structure, and variation in chromosome copy number have been linked to disease.
70yrs ago: duplication of Bar gene in Drosophila melanogaster has been shown to cause the Bar eye phenotype this was one of the first known associations with CNV
Down Syndrome: Chromosome 21
The complexity of CNVs and their nature is now being investigated, with resources available to accomplish such detailed analysis. Normal human genetic variance and other disease studies can be further understood through the understanding of CNVs.
To provide one of the first CNV maps of the human genome and demonstrate this utility as a great resource for future genetic disease studies and to provide a framework for studies of human genetic variation by studying and screening for CNV of several individuals across populations of different ancestry.