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Duplication identification software tools | High-throughput sequencing data analysis

Segmental duplication or low-copy repeat. A segment of DNA >1 kb in size that occurs in two or more copies per haploid genome, with the different copies sharing >90% sequence identity. They are often variable in copy number and can therefore also be CNVs.

Source text:
(Feuk et al., 2006) Structural variation in the human genome. Nat Rev Genet.

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