Distribution of large-scale copy-number variations in the human genome.

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Distribution of large-scale copy-number variations in the human genome.

Circles to the right of each chromosome ideogram show the number of individuals with copy gains (blue) and losses (red) for each clone among 39 unrelated, healthy control individuals. Green circles to the left indicate known genome sequence gaps within 100 kb of the clone, or segmental duplications known to overlap the clone, as compared to the Human Recent Segmental Duplication Browser. Cytogenetic band positions are shown to the left.

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Copy Number Variation and Genetic Disease

Did you know that a large number of your genes exist in variable numbers of copies? While they can overlap with disease-related genes, these variants exist in healthy individuals too.