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Table 2 Categorization of the 1674 genomic sites in NA12878 that were found to have matching CORGi calls in both PacBio and Moleculo data

From: Detection and visualization of complex structural variants from long reads

CORGi SV Call

 

LUMPY call (if applicable):

Description:

Count:

 

DEL

1379

DELETION: 1171

DUP

37

TANDEMDUP: 18

DEL + DUP

3

Complex : 2

DEL + INS

81

DELETION: 50

DEL + INV

8

DELETION: 3, INVERSION: 5

DUP + INS

41

TANDEMDUP: 3, Complex: 1

DUP + INV

5

 

INV + INS

3

 

MULTI-DEL

18

DELETION: 16

MULTI-DUP

3

TANDEMDUP: 1

DEL + DUP + INV

12

DELETION: 4, INVERSION: 4

MULTI-DEL + INS

5

DELETION: 5

MULTI-DEL + INV

11

DELETION: 2, INVERSION: 6, Complex: 3

MULTI-DUP + DEL

8

Complex: 5

MULTI-DUP + INV

1

TANDEMDUP: 1

NESTED-DUP/DEL

9

 

NESTED-DUP/DUP

3

 

NESTED-DUP/INV

2

 

NESTED-DUP/DEL DEL

2

 

NESTED-DUP/DUP DEL

1

Complex: 1

NESTED-DUP/INV DUP

5

 
  1. LUMPY calls from short read data are included for the events that intersect LUMPY high-confidence SVs. The prefix “MULTI” in our SV calls indicate multiple occurrences of the same event type in close proximity. : We choose to define complex as any grouping of two or more LUMPY calls within 1kbp of each other. : NESTED-DUP/DEL denotes a duplication such that the added copy of the duplicated region contains within it a deletion. NESTED-DUP/DUP and NESTED-DUP/INV are defined similarly