Table 4 Case study of cnnLSV on the HG002 dataset

1

934137

INS.177

C

CGCGGAGCGGAGGGC

60

PASS

SVTYPE=INS;

GCGGAGCGGAGGGGA

END=934137;

GGGCGCGGAGCGGAG

SVLEN=59;

GGGGAGGGCGCCGGA

SUPPORT=5;

18

7819365

INS.590523

A

AGAACGATAGAAG

60

PASS

SVTYPE=INS;

CGCTGGATGTTGA

END=7819365;

GGGAGGGTGGAGC

SVLEN=53;

ACACTGGCAGAAG

SUPPORT=2;

5

56131176

DEL.3813

G

GTTGACAGGAAGGCAG

60

PASS

SVTYPE=DEL;

GGAAGAGGAGACAGGA

END=56131239;

AGGCAGGGAAGAGGAG

SVLEN=64;

ACAAGGAGGCAGGGAA

SUPPORT=8;

9

5441971

DEL.4918

A

ATACGTGTGTATATAC

60

PASS

SVTYPE=DEL;

ACACGTATATACATGT

END=5442033;

GTGTATATACATGTGT

SVLEN=63;

GTATATACACACGTA

SUPPORT=3;