Gestational age ISCN Nomenclature a Chromosomal position b Total size (kilo base pairs) Copy number change c Genes Abnormal CNC Type
27 arr 1p35.3 x1 chr1:28245805-28753654 507850 DEL MED18, SNHG12, RNU11, TRNAU1AP, RCC1, SNHG3, SNHG3-RCC1, RAB42, SNORA44, PHACTR4, GMEB1, SNORD99, TAF12, SNORA16A, SESN2, TRNAU1AP, SNORA61, YTHDF2 VOUS
23 arr 2p16.3 x1 chr2:398808-1287541 881512 DUP ABCA7, ARID3A, ATP5D, AZU1, BSG, C19orf20, C19orf21, C19orf22, C19orf23, C19orf24, C19orf26, C19orf6, CDC34, CFD, CIRBP, CNN2, EFNA2, ELANE, FGF22, FSTL3, GPX4, GRIN3B, GZMM, HCN2, HMHA1, MADCAM1, MED16, MIDN, ODF3L2, PALM, POLR2E, POLRMT, PRG2, PRSSL1, PRTN3, PTBP1, RNF126, SBNO2, SHC2, STK11, WDR18, KISS1R VOUS
24 arr 3p21.31 x3 chr3:45789949-46439467 649517 DUP CCR9, CCR1, CCR3, CCRL2, LZTFL1, XCR1, FYCO1, CCR5, CXCR6, SLC6A20, LTF VOUS
23 arr 5p15.2 x3 chr5:10855222-11406627 551405 DUP CTNND2 VOUS
24 arr 6p25.1p24.3 x3 chr6:6898829-7511849 613020 DUP RREB1, CAGE1, SSR1, RIOK1 VOUS
23 arr 7q11.23 x1 chr7:74194985-74701057 506072 DEL CLIP2, GTF2IRD1, LAT2, RFC2, GTF2I VOUS
35 arr 7p12.3 x3 chr7:48088308-48659125 650946 DUP UPP1, ABCA13, C7orf57, SUNC1 VOUS
20 arr 7p21.1 x3 chr7:18999800-19353210 353410 DUP RPSAP58, ZNF681, LOC100101266, ZNF675, ZNF254 VOUS
24 arr 10q23.3 x3 chr10:88908456-89458227 549771 DUP ACTA2, FAS, IFIT2, LIPA, IFIT1, CH25H, IFIT1L, IFIT3, STAMBPL1, SLC16A12 VOUS
23 arr 10q22.1 x3 chr10:70693170-71216306 523137 DEL ADAMTS14, TBATA, SGPL1, PCBD1, UNC5B VOUS
24 arr 11p13 x3 chr11:33026980-33613990 587010 DUP CSTF3, LOC283267, TCP11L1, HIPK3, C11orf41, DEPDC7 VOUS
27 arr 4q32.3q35.2 x1 chr4:164762764-171448183 6685419 DEL AADAT, ANXA10, C4orf27, C4orf39, CBR4, CLCN3, CPE, DDX60, DDX60L, GK3P, KLHL2, MFAP3L, NEK1, PALLD, SC4MOL, SH3RF1, SPOCK3, TLL1, TRIM60, TRIM61, TRIM75, TMEM192 Pathogenic
arr 17p13.3 x3 chr17:150721-2961603 2810882 DEL YWHAE, PAFAH1B1, PITPNA, PRPF8, SMG6, MNT Pathogenic
23 arr 16p13.11p12.3 chr16:15388064-18463342 3075278 DUP ABCC1, ABCC6, C16orf45, C16orf63, KIAA0430, LOC339047, MPV17L, MYH11, NDE1, NOMO2, NOMO3, XYLT1 Pathogenic
34
20 arr 17q12 x3; chr17:37084992-38747513 1662521 DUP AATF, ACACA, AP1GBP1, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LOC284100, MRM1, MYO19, PIGW, TADA2L, TBC1D3, TBC1D3D, TBC1D3E, TBC1D3F, ZNHIT3 Pathogenic
27 arr 18p11.21 x3 chr18:13584400-14770947 1186547 DUP ANKRD30B, C18orf1, C18orf19, CXADRP3, LOC284233, MC2R, MC5R, POTEC, RNMT, ZNF519 Pathogenic
28 arr 19q13.12 x3 chr19:52003118-52527157 524039 DUP ZNF610, ZNF528, LOC400713, ZNF616, PPP2R1A, ZNF614, ZNF836, ZNF841, ZNF432, ZNF534, ZNF766, ZNF480, ZNF615 VOUS
31 arr 19q13.12 x3 chr19:36779213-37304888 525675 DUP ZNF790, ZNF345, ZNF829, ZNF568, ZNF420, ZNF585A, ZNF585B, ZNF383 VOUS
29 arr 19p13.3 x3 chr19:422237-1310137 887899 DUP GRIN3B, ABCA7, ARID3A, ATP5D, AZU1, BSG, C19orf20, C19orf21, C19orf22, C19orf23, C19orf24, C19orf26, C19orf6, CDC34, CFD, CIRBP, CNN2, EFNA2, ELANE, FGF22, FSTL3, GPX4, GZMM, HCN2, HMHA1, KISS1R, MADCAM1, MED16, MIDN, PALM, POLR2E, POLRMT, PRG2, PRSSL1, PRTN3, PTBP1, RNF126, SBNO2, STK11, WDR18 VOUS
40 chr19:490414-1310137 819722
21 arr 21q21.3 x3 chr21:26867843-28045871 1178028 DUP C21orf94, ADAMTS5, NCRNA00113 VOUS
37 arr 22q11.21 x1 chr22:19941772-22169126 2227354 DEL ARVCF, C22orf25, C22orf29, C22orf39, CDC45L, CLDN5, CLTCL1, COMT, DGCR10, DGCR11, DGCR14, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LOC150185, LOC150197, MAPK1, MED15, MRPL40, PI4KA, PI4KAP1, POM121L4P, PRODH, RANBP1, RIMBP3, RTN4R, SCARF2, SEPT5, SERPIND1, SLC25A1, TBX1, TMEM191A, TRMT2A, TSSK2, TXNRD2, UFD1L, ZDHHC8, ZNF74 Pathogenic
33 arr 22q11.21 x3 chr22:18760914-20280182 1519268 DUP C22orf39, CDC45L, CLDN5, CLTCL1, COMT, DGCR10, DGCR11, DGCR14, DGCR2, DGCR5, DGCR6, DGCR8, DGCR9, GGT3P, GNB1L, GP1BB, GSC2, HIRA, LOC150185, LOC150197, MRPL40, PRODH, RANBP1, RTN4R, SEPT5, SLC25A1, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1L, ZDHHC8 Pathogenic
36 arr 22q11.21q11.23 x1 chr22:19941772-22169126 2227354 DEL AIFM3, ARVCF, BCR, C22orf25, C22orf29, C22orf39, CCDC116, CDC45L, CLDN5, CLTCL1, COMT, CRKL, DGCR10, DGCR11, DGCR14, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, FLJ39582, GGTLC2, GNAZ, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LOC150185, LOC150197, LOC400891, LOC648691, LOC96610, LZTR1, MAPK1, MED15, MGC16703, MRPL40, P2RX6, P2RX6P, PI4KA, PI4KAP1, PI4KAP2, POM121L1P, POM121L4P, POM121L8P, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RTDR1, RTN4R, SCARF2, SDF2L1, SEPT5, SERPIND1, SLC25A1, SNAP29, TBX1, THAP7, TMEM191A, TOP3B, TRMT2A, TSSK2, TXNRD2, UBE2L3, UFD1L, VPREB1, YDJC, YPEL1, ZDHHC8, ZDHHC8P, ZNF280A, ZNF280B, ZNF74, SLC7A4 Pathogenic