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Fig. 6 | Genome Biology

Fig. 6

From: Resolving complex structural genomic rearrangements using a randomized approach

Fig. 6

Examples of various types of CSV in NA12878 identified by SVelter. a IGV screenshot of disperse duplication event predicted by SVelter. Line colors as described in Fig. 4. Such regions are typically identified as an overlapping tandem duplication and deletion. b Example of inverted duplication event. Blue lines in IGV indicated reverse-reverse RP orientation while dark green lines indicate forward-forward RP orientation. c Region with heterozygous inversion and deletion rearrangement. d Region with homozygous inversion and deletion rearrangement. All regions shown had PacBio sequences consistent with predicted SVelter structures and were misclassified by other approaches (Additional file 2: Figures S8–S11)

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