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Table 1 Predicted SV types in CHM1 and NA12878 by SVelter

From: Resolving complex structural genomic rearrangements using a randomized approach

SV type

CHM1

NA12878

Simple DEL

1003 (0.72)

1867 (0.95)

Simple DUP

897 (0.61)

790 (0.61)

 Tandem

834 (0.62)

755 (0.60)

 Dispersed

63 (0.56)

35 (0.71)

Simple INV

48 (0.75)

107 (0.76)

Simple TRA

24 (0.67)

30 (0.83)

INV + DUP

126 (0.59)

29 (0.86)

DEL + INV

8 (0.88)

26 (0.81)

DEL + DUP

8 (0.50)

12 (0.67)

DEL + DUP + INV

2 (1.00)

6 (0.83)

Other

112 (0.63)

204 (0.77)

  1. Numbers in parenthesis indicate percentage of calls with PacBio validation support. The remaining calls either were not able to be assayed with our approach or were invalidated