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. Author manuscript; available in PMC: 2020 Sep 20.
Published in final edited form as: Am J Med Genet A. 2020 Mar 3;182(5):1143–1151. doi: 10.1002/ajmg.a.61539

Table 1.

Breakpoint junctions and characterization of molecular signature

Breakpoint junction Genomic coordinate (prox end) Genomic coordinate (distal end) BL/INS/ MH Size (bp) Source
der5_jct1 6:52164816 5:66424678 MH 4 NR
der5_jct2 5:66416578 6:54477651 BL - NR
der5_jct3 6:54468957 6:55440339 BL - NR
der5_jct4 6:55549994 6:54532787 MH 5 NR
der5_jct5 6:54477667 5:37060348 INS 16 NR
der5_jct6 5:66416448 6:54144313 BL - NR
der5_jct7 6:52268476 6:54160494 INS 91 NA
der5_jct8 6:54160401 7:123818519 INS 71 chr6:55419517–55419557 [41bp]; chr6:52268424–52268448 [25bp]
der6_jct1 5:37060326 6:55440329 INS 25 NA
der6_jct2 6:55419612 6:54233402 MH 2 NR
der6_jct3 6:54468932 6:54144318 INS 8 NR
der6_jct4 6:54160398 5:66424725 INS 32 NA
der6_jct5 5:66444130 6:55550005 INS 83 chr6:52266027–52266050 [24bp]
der7_jct1 7:123818492 5:66449983 MH 1 NR
der7_jct2 5:66463171 6:54233319 MH 2 NR
der7_jct3 6:54160547 5:68215114 INS 117 NA
der7_jct4 5:66463179 5:68215535 BL - NR
der21_jct1 21:14598180 6:52268420 INS 43 chr6:54160487–54160508 [22bp]
der21_jct2 6:52266075 6:54532789 MH 1 NR
der21_jct3 6:55416595 5:66444415 INS 111 chr6:55419496–55419523 [28bp]; chr6:55419553–55419573 [21bp]
der21_jct4 5:66449980 6:55416610 BL - NR
der21_jct5 6:55419503 6:52266036 INS 4 NR
der21_jct6 6:52164824 21:14598357 BL - NR

Abbreviations: BL - blunt, INS - insertion, MH - microhomology, NA - not available, NR- not relevant