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Table 2 Summary of validation of inversions predicted in the genome of NA12878 using Valor

From: Discovery of large genomic inversions using long range information

Chromosome

Coordinates

Result

InvFEST

chr8

6,922,489–12,573,597

confirmed [51, 52]

HsInv0501

chr15

30,823,312–32,859,062

confirmed [53]

HsInv1049

chr16

16,722,093–18,732,305

confirmed (this study)

HsInv0368

chr17

34,572,064–36,296,916

confirmed (InvFEST)

HsInv1048

  1. Valor returns four coordinates for each inversion for two breakpoints. The coordinates above are the inner breakpoint predictions, and are from the GRCh37 reference genome. The InvFEST database reports inversions in NCBI reference build 36 coordinates, we thus converted the coordinates using the liftOver tool (https://genome.ucsc.edu/cgi-bin/hgLiftOver)