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CNVs can consist of deletions, duplications or multi-site variants in DNA segments, ranging from a few kilobases to megabases in length. Visualization of human chromosomes has been relatively common, however commercially available FISH probes, covering 100 to 300 kilobases, or 100,000 to 300,000 DNA bases, have been too large for their targeted DNA. The project involved sequencing several hundred kilobases of DNA, including all coding and regulatory regions, from 25 persons of diverse racial and ethnic backgrounds. |
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