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Table 1 Annotations of the non-reference insertion SVs and novel functions revealed by RNAseq data

From: Insertion variants missing in the human reference genome are widespread among human populations

Annotation

Number

Novel function

Number

Exonic

3 (0.2%)

Modified transcript

3 (100%)

UTR

11 (0.7%)

Modified transcript

7 (63.6%)

ncRNA

109 (6.4%)

Modified transcript

22 (20.2%)

Intronic

533 (31.4%)

Novel exon

40 (7.5%)

Intergenic

1040 (61.3%)

Intergenic novel transcript

123 (11.8%)

  1. UTR untranslated region, ncRNA non-coding RNA