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. 2018 Feb 2;8(5):1301–1311. doi: 10.7150/thno.21979

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(A) A 122kb chromosome 18q21.1 deletion (Chr 18: 46,888,182-47,010,397) was detected by CytoScanTM HD array. The log 2-based test/reference intensity ratios of DNA clones located on chromosome 18 were below -0.5 (black arrow)—the position of the 18q21.1 deletion within the DYM gene. (B) A picture is demonstrated that the distribution of genetic CNVs surrounding DYM gene in chromosome 18. The log 2-based maternal peripheral blood sample (MPB)/maternal independent sample (Mat) ratio was calculated; >0 means genetic duplication and <0 means deletion. The gene which has a high grey spots coverage part means a high false positive rate.