Spreadsheet: 40b18116-af91-43b1-bbfc-3314ad499157
Sheet: Sheet1

Cohort Subgroup | Family ID | Individual ID | Copy Number State | Loss/Gain | Chr | Start | END | SIZE_KB | Mode of Transmission | Refseq Genename | Independent Confirmation Method and FiSH description | Used Probe ID
Affected LS-CHD | 54 | 390 | 3 | Gain | 1 | 144191802 | 144946222 |  | de novo | LIX1L,[NAME],GNRHR2,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,[NAME],GPR89C,PDZK1P1,NBPF11,NBPF24 | QPCR | Hs01569494_cn
Affected LS-CHD | 79 | 834 | 3 | Gain | 2 | 74218356 | 74330695 |  | de novo | BOLA3, MOBL1B, MTHFD2, SLC4A5 | QPCR | Hs00538426_cn
Affected LS-CHD | 34 | 243 | 3 | Gain | 8 | 104431363 | 104947521 |  | de novo | CTHRC1, SLC25A32, DCAF13, RIMS2 | QPCR | Hs02243422_cn
Affected LS-CHD | 65 | 679 | 1 | Loss | 11 | 42726476 | 42976567 |  | de novo | none | FISH (del(11)(p12)) | RP11-97G22
Affected LS-CHD | 8 | 607 | 3 | Gain | 17 | 15694406 | 20495220 |  | de novo | ADORA2B,ZSWIM7,TTC19,NCOR1,PIGL,MIR1288,CENPV,UBB,TRPV2,NCRNA00188,SNORD49B,SNORD49A,SNORD65,C17orf76,ZNF287,ZNF624,CCDC144A,[NAME],MPRIP,PLD6,FLCN,COPS3,NT5M,MED9,RASD1,PEMT,RAI1,SMCR5,SREBF1,MIR33B,TOM1L2,LRRC48,ATPAF2,C17orf39,DRG2,MYO15A,ALKBH5,LLGL1,FLII,SMCR7,TOP3A,SMCR8,SHMT1,EVPLL,LOC339240,LGALS9C,LOC220594,FAM106A,CCDC144B,TBC1D28,ZNF286B,FOXO3B,TRIM16L,FBXW10,FAM18B,PRPSAP2,SLC5A10,FAM83G,GRAP,GRAPL,EPN2,B9D1,MIR1180,MAPK7,MFAP4,RNF112,SLC47A1,SNORA59A,[NAME],ALDH3A2,SLC47A2,ALDH3A1,ULK2,AKAP10,CYTSB,CCDC144C,LGALS9B,KRT16P3,CDRT15L2 | QPCR/FISH dup(17)(p11.2) | Hs02551777_cn, SMS++
Affected LS-CHD | 4 | 26 | 1 | Loss | X | 108477 | 2821400 |  | de novo | PLCXD1,PPP2R3B,SHOX,[NAME],IL3RA,SLC25A6,ASMTLAS,ASMTL,P2RY8,SFRS17A,ASMT,DHRSX,ZBED1,NCRNA00103,CD99,XG,XGPY2,GYG2
Affected LS-CHD | 5 | 20 | 2 | Gain | X | 53335297 | 53482009 |  | N/A | IQSEC2, SMC1A, RIBC1, HSD17B10 | QPCR/FiSH ins(X;9)(p11.22;q12) | Hs01754886_cn, RP11-52N6+
Affected LS-CHD | 38 | 228 | 1 | Loss | 1 | 73753866 | 73779001 |  | inherited | none
Affected LS-CHD | 54 | 389 | 1 | Loss | 2 | 108598687 | 108680879 |  | inherited | LIMS1 | QPCR | Hs02848736_cn
Affected LS-CHD | 21 | 106 | 1 | Loss | 2 | 233488430 | 233543898 |  | inherited | NGEF | QPCR | Hs00651977_cn
Affected LS-CHD | 54 | 389 | 3 | Gain | 3 | 123892898 | 124232468 |  | inherited | Parp14, HSPBAP1, DIRC2, SEMA5B | QPCR | Hs01755081_cn
Affected LS-CHD | 24 | 120 | 3 | Gain | 4 | 63926513 | 64176145 |  | inherited | none | QPCR | Hs06707014_cn
Affected LS-CHD | 60 | 426 | 3 | Gain | 4 | 131644212 | 131739372 |  | inherited | none
Affected LS-CHD | 5 | 17 | 1 | Loss | 5 | 51389031 | 51554613 |  | inherited | none
Affected LS-CHD | 5 | 16 | 1 | Loss | 5 | 51389031 | 51557404 |  | inherited | none
Affected LS-CHD | 77 | 722 | 1 | Loss | 5 | 60317732 | 60498913 |  | inherited | NDUFAF2, C5orf43
Affected LS-CHD | 20 | 103 | 1 | Loss | 5 | 78479491 | 78521698 |  | inherited | none
Affected LS-CHD | 20 | 101 | 1 | Loss | 5 | 78481215 | 78521698 |  | inherited | none
Affected LS-CHD | 20 | 102 | 1 | Loss | 5 | 78486684 | 78521698 |  | inherited | none
Affected LS-CHD | 39 | 244 | 3 | Gain | 5 | 101223293 | 101283816 |  | inherited | none
Affected LS-CHD | 25 | 124 | 3 | Gain | 6 | 1601083 | 1666913 |  | inherited | [NAME] | QPCR | Hs04886930_cn
Affected LS-CHD | 51 | 375 | 3 | Gain | 7 | 11200879 | 11349701 |  | inherited | BC040327
Affected LS-CHD | 5 | 17 | 3 | Gain | 8 | 52441446 | 52519681 |  | inherited | PXDNL | QPCR | Hs03040889_cn
Affected LS-CHD | 46 | 285 | 3 | Gain | 8 | 99168617 | 99210425 |  | inherited | C8orf47, HRSP12, POP1
Affected LS-CHD | 24 | 120 | 1 | Loss | 9 | 92468016 | 92504026 |  | inherited | none
Affected LS-CHD | 20 | 101 | 3 | Gain | 13 | 19597296 | 19638023 |  | inherited | GJA3 | QPCR | Hs01210797_cn
Affected LS-CHD | 20 | 103 | 3 | Gain | 13 | 19602443 | 19639168 |  | inherited | GJA3 | QPCR | Hs01210797_cn
Affected LS-CHD | 18 | 92 | 3 | Gain | 13 | 101933444 | 102326338 |  | inherited | TPP2, C13orf39, C13orf40, C13orf27, KDELC1, BIVM, ERCC5 | QPCR | Hs00678783_cn
Affected LS-CHD | 39 | 244 | 1 | Loss | 14 | 20179566 | 20252782 |  | inherited | OR6S1, ANG, RNASE4 | QPCR | Hs02296376_cn
Affected LS-CHD | 29 | 615 | 1 | Loss | 15 | 64745866 | 64767039 |  | inherited | BC016970
Affected LS-CHD | 5 | 17 | 2 | Gain | X | 53335297 | 53482009 |  | inherited | IQSEC2, SMC1A, RIBC1, HSD17B10 | QPCR/FiSH ins(X;9)(p11.22;q12) | Hs01754886_cn, RP11-52N6+
Affected LS-CHD | 43 | 599 | 3 | Gain | 4 | 4060257 | 7883171 |  | N/A | OTOP1,TMEM128,LYAR,ZBTB49,D4S234E,STX18,MSX1,CYTL1,STK32B,C4orf6,EVC2,EVC,CRMP1,JAKMIP1,WFS1,PPP2R2C,MAN2B2,MRFAP1,LOC93622,S100P,[NAME],KIAA0232,TBC1D14,LOC100129931,CCDC96,TADA2B,GRPEL1,FLJ36777,SORCS2,PSAPL1,MIR4274,AFAP1AS,AFAP1 | FISH dup(4)(p16.1) | RP11-89K12++
Affected LS-CHD | 1 | 1 | 1 | Loss | 5 | 4011474 | 4033081 |  | N/A | none
Affected LS-CHD | 25 | 124 | 1 | Loss | 10 | 97709510 | 97738030 |  | N/A | CC2D2B
Affected LS-CHD | 20 | 102 | 4 | Gain | 11 | 47650914 | 47678797 |  | N/A | AGBL2
Affected LS-CHD | 46 | 285 | 3 | Gain | 11 | 48145324 | 48360733 |  | N/A | PTPRJ, OR4B1, OR4X2, OR4X1, OR4C3, OR4C3, OR4C45
Affected LS-CHD | 38 | 230 | 1 | Loss | 1 | 73754532 | 73779001 |  | N/A | none
Affected LS-CHD | 53 | 388 | 3 | Gain | 1 | 172319728 | 172466199 |  | N/A | RABGAP1L
Affected LS-CHD | 46 | 672 | 1 | Loss | 1 | 180116760 | 180163034 |  | N/A | none
Affected LS-CHD | 39 | 246 | 3 | Gain | 1 | 234610890 | 234695332 |  | N/A | [NAME]
Affected LS-CHD | 54 | 390 | 1 | Loss | 2 | 108600625 | 108681384 |  | N/A | LIMS1 | QPCR | Hs02848736_cn
Affected LS-CHD | 39 | 246 | 1 | Loss | 2 | 123772424 | 123798371 |  | N/A | none
Affected LS-CHD | 21 | 107 | 1 | Loss | 2 | 233493259 | 233540754 |  | N/A | NGEF | QPCR | Hs00651977_cn
Affected LS-CHD | 54 | 390 | 3 | Gain | 3 | 123892898 | 124233095 |  | N/A | Parp14, HSPBAP1, DIRC2, SEMA5B | QPCR | Hs01755081_cn
Affected LS-CHD | 24 | 123 | 3 | Gain | 4 | 63924540 | 64176145 |  | N/A | none | QPCR | Hs06707014_cn
Affected LS-CHD | 78 | 717 | 1 | Loss | 4 | 110868747 | 110888710 |  | N/A | PLA2G12A, CFI
Affected LS-CHD | 39 | 246 | 1 | Loss | 4 | 130959465 | 130986341 |  | N/A | BC041448
Affected LS-CHD | 60 | 428 | 3 | Gain | 4 | 131644212 | 131739372 |  | N/A | none
Affected LS-CHD | 43 | 347 | 1 | Loss | 4 | 158769197 | 158790961 |  | N/A | none
Affected LS-CHD | 54 | 389 | 3 | Gain | 4 | 171600811 | 171704105 |  | N/A | none
Affected LS-CHD | 41 | 298 | 1 | Loss | 5 | 4011474 | 4031902 |  | N/A | none
Affected LS-CHD | 5 | 20 | 1 | Loss | 5 | 51389031 | 51554613 |  | N/A | none
Affected LS-CHD | 77 | 723 | 1 | Loss | 5 | 60317720 | 60503249 |  | N/A | NDUFAF2, C5orf43
Affected LS-CHD | 39 | 246 | 3 | Gain | 5 | 101230797 | 101283816 |  | N/A | none
Affected LS-CHD | 25 | 127 | 3 | Gain | 6 | 1602414 | 1674591 |  | N/A | [NAME] | QPCR | Hs04886930_cn
Affected LS-CHD | 41 | 297 | 4 | Gain | 6 | 111394713 | 111459392 |  | N/A | GTF3C6, [NAME]
Affected LS-CHD | 51 | 499 | 3 | Gain | 7 | 11209468 | 11349545 |  | N/A | BC040327
Affected LS-CHD | 5 | 19 | 3 | Gain | 8 | 52441446 | 52519681 |  | N/A | PXDNL | QPCR | Hs03040889_cn
Affected LS-CHD | 46 | 671 | 1 | Loss | 8 | 93908877 | 93967374 |  | N/A | AK128161, C8orf83
Affected LS-CHD | 46 | 671 | 3 | Gain | 8 | 99174902 | 99210425 |  | N/A | C8orf47, HRSP12, POP1
Affected LS-CHD | 1000 | 3069 | 3 | Gain | 8 | 123571823 | 123624421 |  | N/A | none
Affected LS-CHD | 24 | 123 | 1 | Loss | 9 | 92472731 | 92504026 |  | N/A | none
Affected LS-CHD | 34 | 303 | 1 | Loss | 9 | 118728421 | 118748644 |  | N/A | ASTN2
Affected LS-CHD | 90 | 853 | 3 | Gain | 11 | 23743657 | 23828785 |  | N/A | none
Affected LS-CHD | 16 | 84 | 1 | Loss | 12 | 2116111 | 2140540 |  | N/A | CACNA1C
Affected LS-CHD | 82 | 818 | 3 | Gain | 13 | 75431225 | 75459484 |  | N/A | none
Affected LS-CHD | 18 | 96 | 3 | Gain | 13 | 101933444 | 102322146 |  | N/A | TPP2, C13orf39, C13orf40, C13orf27, KDELC1, BIVM, ERCC5 | QPCR | Hs00678783_cn
Affected LS-CHD | 39 | 245 | 1 | Loss | 14 | 20179566 | 20258525 |  | N/A | OR6S1, ANG, RNASE4 | QPCR | Hs02296376_cn
Affected LS-CHD | 29 | 144 | 1 | Loss | 15 | 64745866 | 64767039 |  | N/A | BC016970
Affected LS-CHD | 16 | 81 | 1 | Loss | 16 | 72328136 | 72380055 |  | N/A | none
Affected LS-CHD | 52 | 382 | 1 | Loss | 16 | 76510100 | 76590709 |  | N/A | VAT1L | QPCR | Hs00614751_cn
Affected LS-CHD | 30 | 151 | 3 | Gain | 17 | 46508751 | 46574631 |  | N/A | SPAG9
Affected LS-CHD | 24 | 122 | 4 | Gain | x | 297864 | 371142 |  | N/A | none