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. Author manuscript; available in PMC: 2020 Mar 7.
Published in final edited form as: Cell. 2019 Feb 28;176(6):1310–1324.e10. doi: 10.1016/j.cell.2019.01.045

Table 1-.

Breakpoint characteristics of non-recurrent 17p11.2 SVs

SMS patient (BAB) CNV Coordinates Start CNV Coordinates End Previously published jet How First Discovered Microhomology/Microhomeology LCR involvement Parent of origin
572 15442169–15538711 18285665–18529905 No ND - Prox-CMT1A REP and Middle_REP Paternal
641 16066603 18517335 No PacBio-Honey GG-ACaAATGT One side LCR (Middle_REP) Paternal
649_ DEL1 16808862 16845031 Yesa aCGH/PCR CTCCaATT One side LCR (16800001–16810027) Paternal
649_ DEL2 16838686 20020394 Yesa aCGH/PCR TGC Insertion No
765 15441705 18005708 Yesb aCGH/PCR AluY (LCR)-AluSg One side LCR (15422954–15470900) Paternal
1354 17141946 19676163 Yesb aCGH/PCR AluSc-AluY No Paternal
2564 16035839 17868741 Yesa aCGH/PCR AGAgAACCAc- No Paternal
1931_DEL1 16936331 16957539 Yesa aCGH/PCR T No Paternal
1931_ DEL2 17026085 20003602 Yesa aCGH/PCR TG No
1931_ DEL3 20148325 20409129 No PacBio 0 (Blunt) One side LCR (Prox_REP)
3031 17528139 21442150 Yesa aCGH/PCR GAG No Paternal
3133 16916256 19710487 No PacBio-Honey TCA One side LCR (chr17:16905297–16921134) Paternal
1615 17179369 20415088 No PacBio-Honey CCccAG One side LCR (Prox_REP) Paternal
6311 16008637 20245447 No PacBio-Honey ATGA-GcTG One side LCR (Prox_REP) Paternal
8501 13845144 19105614 No PacBio CAGT One side LCR (REPA/B) Maternal
PTLS Patient (BAB) CNV Coordinates Start CNV Coordinates End Previously published jet How First Discovered Microhomology/Microhomeology LCR involvement Parent of origin
2695_TRP 16196568 16237498 Yesc aCGH/PCR Jct1– 31 bp AluY-AluY No Paternal, interg
2695_DUP 15868173 20392173 Yesd PacBio-Honey Jct2– 6 bp AluSx-AluY One side LCR (Prox_REP)
2965_DUP 16596682 – 16700366 18322741 – 18672674 No ND - Distal REP to Middle_REP Paternal, interg
2965_TRP 18322741 – 18672674 18912715 – 191628699 ND - Middle REP to REPA/B
2992 18922955–19139789 21508001 – 21692001 No ND - REPA/B and gap containing LCR ND-
3344 16654065 17326680 No PacBio-Honey TCT One side LCR (Distal_REP) ND
3793_DUP1 16203013 16596682–16757352 Yesd PacBio-Honey Jct1- TT…(74 bp)…ATC No Estimated Paternal
3793_DUP2 17652760 18285665–18529905 No ND - Distal and Middle_REPs (inverted)
2337_DEL1 0 565389 – 566912 Yese aCGH/PCR Jct- AluSp T-rich repeats:18 bp insertion No Maternal, intrag
2337_DUP1 6001081 6321783 Yese aCGH/PCR Jct2- (MER4B-int – Unique): 33 bp insertion No
2337_DEL2 11587499 13490898 Yese aCGH/PCR Jct3- (L1MA4 – Unique): 257 bp insertion No
2337_DUP2 13797160–13796836 19655692 Yese aCGH/PCR Jct4- (L1MC4a – Unique): 551 bp insertion No
2337_TRP1 14362549 14429100 No ND - No
2337_TRP2 17088740 17596327–17596376 No ND - No
6917_DEL 18517199–18530187 18921809–19140804 No ND - Middle REP to REPA/B Estimated Maternal
6917_DUP 18921809–19140804 20220361–20434555 No ND - REPA/B to Prox_REP
8325_DUP 16596682–16757352 18322741 – 18672674 No ND - Distal to Middle REP Estimated Maternal
8325_TRP 18322741 – 18672674 22234399 – 25336352 No ND - Middle_REP to centromere
1229_DEL 15075315 15113726 Yesc aCGH/PCR Jct1-ACCTTC No Estimated Maternalf
1229_DUP 15214631h 21968267h No PacBio Jct2- AA Distal end of DUP is not in hg19 (LCR/gap)
2543_DUP1 16596682–16757352 18037186 No PacBio-Honey Jct1–29bp, AluSz-AluSx One side LCR (REPA/B) Maternal, interg
2543_DUP2 18285665–18529905 19015148 No ND - Distal and Middle REPs
2811 17568703 18320581 No PacBio-Honey CA-CA-CA Middle_REP Estimated Maternal
2986 17421889 17833037 No PacBio-Honey A No Estimated Maternal
3810 16688590 18555065 No PacBio-Honey AtacATgAT Distal _REP and REPA/B Estimated Maternal
8123_DUP1 16596682–16757352 16881155 No PacBio-Honey Jct1-CAGG insertion and 25 bp, AluY-AluY No Estimated Paternal
8123_DUP2 16953565 17119625 No PacBio-Honey Jct2- TATAA insertion No
8123_DUP3 19987528 20220361–20434555 No ND - Distal and Prox_REPs
a-

found previously (Liu et al., 2011b)

b-

found previously (Shaw and Lupski, 2005)

c-

found previously (Zhang et al., 2009b)

d-

found previously (Wang et al., 2015a)

e-

found previously (Yuan et al., 2015)

f-

found previously (Potocki et al., 2007) to be paternal; BAB numbers of parents were switched in the 2007 study; therefore, the previous and current data are congruent.

g-

found previously (Sun et al., 2013)

h-

coordinates in hg38, jct in gap region in hg19

All coordinates are in hg19 unless indicated. Abbreviations in the table: DUP, duplication; TRP, triplication; DEL, deletion; ND, not-determined; Jct, junction; aCGH, array comparative genomic hybridization; intra, intrachromosomal; inter, interchromosomal.

If a patient has no rearrangement type listed, it is a DEL for SMS and a DUP for PTLS. See also Figure 3 and Data S1.