Copy Number Variation Detcted In Diploid Human Genome

OMIM Genes Summary CNV ID

CNV Type loss gain loss gain loss loss loss loss loss gain gain

CNV Location chr1:10599387-10796739 chr1:25488723-25521045 chr11:1798403-2075695 chr12:50965167-51071800 chr17:37949423-37966231 chr2:19472128-20544415 chr8:145652923-145721314 chr9:138496247-138577287 chrX:778291-2704240 chrX:2542769-2704239 chrX:153662541-154582606

Gene Symbol PEX14 RHD TNNT3, TNNI2 KRTHB1, KRTHB6 NAGLU MATN3 RECQL4 NOTCH1 XG, CSF2RA XG F8

CNVR_1 CNVR_5 CNVR_2 CNVR_3

CNV Type loss gain loss gain

CNV Location chr1:10599387-10796739 chr1:153084977-153149168 chr1:17081919-17124754 chr1:25488723-25521045

# of Genes 3 1 1 1

CNVR_39 CNVR_49 CNVR_48 CNVR_52 CNVR_51

loss gain loss gain loss

chr2:19472128-20544415 chr3:150633992-150684992 chr3:53001754-53013826 chr4:69057535-69166014 chr4:841357-954359

7 1 1 1 3

CNVR_55 CNVR_56 CNVR_57 CNVR_58 CNVR_59 CNVR_62 CNVR_61 CNVR_66

gain gain loss gain gain gain loss loss

chr5:140203240-140216724 chr5:180350918-180362542 chr6:214735-294386 chr6:31467627-31565557 chr6:32718791-32732964 chr7:134663671-134707686 chr7:38234920-38325253 chr8:144691326-144707415

10 1 1 1 1 1 2 1

CNVR_67 CNVR_68

loss loss

chr8:145195417-145299088 chr8:145348220-145484561

7 2

CNVR_69 CNVR_71

loss loss

chr8:145652923-145721314 chr9:138496247-138577287

9 2

CNVR_72

loss

chr9:138809965-138873931

5

CNVR_7

loss

chr11:1798403-2075695

5

CNVR_1 CNVR_3 CNVR_7 CNVR_10 CNVR_33 CNVR_39 CNVR_69 CNVR_71 CNVR_74 CNVR_75 CNVR_77

RefSeq Genes Summary CNV ID

CNVR_8

loss

chr11:63495218-63620787

3

CNVR_10 CNVR_11 CNVR_15 CNVR_20 CNVR_21 CNVR_18 CNVR_28

gain loss loss loss gain gain loss

chr12:50965167-51071800 chr12:81692244-81732514 chr13:112733655-112742510 chr14:104778337-104903908 chr14:105042939-105839639 chr14:73091818-73114328 chr16:68726357-68754434

5 1 1 3 1 2 1

CNVR_32 CNVR_33 CNVR_34

loss loss loss

chr17:31463252-31895171 chr17:37949423-37966231 chr17:41563921-41719833

6 2 1

CNVR_36 CNVR_31 CNVR_38 CNVR_43

loss loss loss gain

chr17:77442483-77503679 chr17:9181292-9209227 chr18:17427868-17502690 chr20:14729684-14888687

7 1 3 1

CNVR_44

gain

chr21:9887804-10189119

6

CNVR_45 CNVR_46 CNVR_76

gain gain gain

chr22:20783684-21598390 chr22:22677759-22725505 chrX:118921319-118937062

6 1 1

CNVR_77 CNVR_75

gain gain

chrX:153662541-154582606 chrX:2542769-2704239

15 4

CNVR_74

loss

chrX:778291-2704240

12

Gene ID 5195 6007 7140, 7136 3887; 3892 4669 4148 9401 4851 7499, 1438 7499 2157

Gene Symbol PEX14, SRG, CASZ1 KCNN3 CROCC RHD MATN3, RHOB, LAPTM4A, WDR35, SDC1, PUM2, TTC32 TM4SF4 SFMBT1 UGT2B17 DGKQ, GAK, TMEM175 PCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, BTNL3 DUSP22 HCP5 HLA-DQA1 CNOT4 TARP, STARD3NL ZC3H3 KIAA1875, GPAA1, SHARPIN, MAF1, EXOSC4, C8orf30A, CYC1 C8orf30A, BOP1 CYHR1, FOXH1, GPT, KIFC2, LRRC14, LRRC24, MFSD3, PPP1R16A, RECQL4 NOTCH1, C9orf163 LOC389813, MAMDC4, KIAA1984, PHPT1, C9orf86 LSP1, SYT8, TNNI2, TNNT3, MRPL23

Overlap Type spanOne spanBothExon within within spanOne within within within spanOne, within spanOne within

DISEASE ZELLWEGER SYNDROME; ZS RHESUS BLOOD GROUP, D ANTIGEN; RHD ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B MONILETHRIX MUCOPOLYSACCHARIDOSIS TYPE IIIB EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5 BALLER-GEROLD SYNDROME; BGS T-CELL LYMPHOBLASTIC LEUKEMIA LEUKEMIA, ACUTE MYELOID, M2 TYPE XG BLOOD GROUP SYSTEM; XG HEMOPHILIA A

COX8A, OTUB1, LRP16 KRT81, KRT86, KRT84, KRT85, KRT83 TMTC2 MCF2L BRF1, PACS2, BTBD6 TMEM121 HEATR4, ACOT2 PDPR TBC1D3G, CCL4L2, CCL3L3, CCL3L1, TBC1D3C, CCL4L1 HSD17B1, NAGLU KIAA1267 ANAPC11, MAFG, NPB, PCYT2, PYCR1, SIRT7, THOC4 STX8 ABHD3, ESCO1, SNRPD1 C20orf133 BAGE2, BAGE, TPTE, BAGE5, BAGE3, BAGE4 LOC96610, PRAME, SUHW2, GGTL4, VPREB1, SUHW1 GSTT1 AKAP14 BRCC3, CLIC2, F8, F8A1, F8A2, F8A3, FUNDC2, H2AFB1, H2AFB2, H2AFB3, MPP1, MTCP1, RAB39B, TMLHE, VBP1 XG, CD99 ASMT, ASMTL, CD99, CRLF2, CSF2RA, CXYorf3, DHRSX, IL3RA, P2RY8, SLC25A6, XG, ZBED1