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. Author manuscript; available in PMC: 2010 May 24.
Published in final edited form as: Nat Genet. 2009 Aug 30;41(10):1061–1067. doi: 10.1038/ng.437

Figure 5. FISH validation.

Figure 5

a) Sequence read-depth predicts 5 copies of this particular 17q21.31 segment in the YH genome and 2 copies (unique) in NA18507. ArrayCGH shows an increase in the YH genome and interphase nuclei FISH confirms the absolute copy-number difference between the two genomes. b) Similarly, interphase FISH confirms copy-number difference of 5 vs. 12 copies for the NPEPPS gene. c) YH is predicted and validated to have two more copies of the defensin gene family cluster of 8p23.1. d) Due to the known mosaic architecture 38 for this high copy locus (>30 copies), both arrayCGH and FISH methods fail to accurately estimate copy-number difference between NA18507 and YH genomes: despite the fact that sequence depth predicts ~2 more copies in NA18507.