Table 2.

Breakpoint junction characteristics of the four CGRs

FamiliesBPJChrPosAPosBGeneAGeneBINSHomologyPosA repeatPosB repeat
1,214111100841113912749ELOVL6ANK2–AA–MLT1A
1,224113915113113954280ANK2ANK28 nt–AluSz–
31X2902005933038509IL1RAPL1DMD–175 ntAluSx3AluSz
32X2957040833426916IL1RAPL1––AATLTR48B–
41142150100121879481RNASE13 NDRG2CHD8–TGAAL1MD2–
42142150297621849620RNASE13 NDRG2SUPT16H–GTT––
511636885033689781–––GGCAluYAluJo
521637624603899656TRAP1CREBBP–TCA–FLAM_C

[i] (INS) Insertion.