OMIM Genes Summary

CNV ID CNV Type CNV Location Gene Symbol

CNVR_1 loss chr1:10599387-10796739 PEX14
CNVR_3 gain chr1:25488723-25521045 RHD
CNVR_7 loss chr11:1798403-2075695 TNNT3, TNNI2
CNVR_10 gain chr12:50965167-51071800 KRTHB1, KRTHB6
CNVR_33 loss chr17:37949423-37966231 NAGLU
CNVR_39 loss chr2:19472128-20544415 MATN3
CNVR_69 loss chr8:145652923-145721314 RECQL4
CNVR_71 loss chr9:138496247-138577287 NOTCH1
CNVR_74 loss chrX:778291-2704240 XG, CSF2RA
CNVR_75 gain chrX:2542769-2704239 XG
CNVR_77 gain chrX:153662541-154582606 F8

RefSeq Genes Summary

CNV ID CNV Type CNV Location # of Genes

CNVR_1 loss chr1:10599387-10796739 3
CNVR_5 gain chr1:153084977-153149168 1
CNVR_2 loss chr1:17081919-17124754 1
CNVR_3 gain chr1:25488723-25521045 1

CNVR_39 loss chr2:19472128-20544415 7

CNVR_49 gain chr3:150633992-150684992 1
CNVR_48 loss chr3:53001754-53013826 1
CNVR_52 gain chr4:69057535-69166014 1
CNVR_51 loss chr4:841357-954359 3

CNVR_55 gain chr5:140203240-140216724 10

CNVR_56 gain chr5:180350918-180362542 1
CNVR_57 loss chr6:214735-294386 1
CNVR_58 gain chr6:31467627-31565557 1
CNVR_59 gain chr6:32718791-32732964 1
CNVR_62 gain chr7:134663671-134707686 1
CNVR_61 loss chr7:38234920-38325253 2
CNVR_66 loss chr8:144691326-144707415 1

CNVR_67 loss chr8:145195417-145299088 7

CNVR_68 loss chr8:145348220-145484561 2

CNVR_69 loss chr8:145652923-145721314 9

CNVR_71 loss chr9:138496247-138577287 2

CNVR_72 loss chr9:138809965-138873931 5

CNVR_7 loss chr11:1798403-2075695 5

CNVR_8 loss chr11:63495218-63620787 3

CNVR_10 gain chr12:50965167-51071800 5

CNVR_11 loss chr12:81692244-81732514 1
CNVR_15 loss chr13:112733655-112742510 1
CNVR_20 loss chr14:104778337-104903908 3
CNVR_21 gain chr14:105042939-105839639 1
CNVR_18 gain chr14:73091818-73114328 2
CNVR_28 loss chr16:68726357-68754434 1

CNVR_32 loss chr17:31463252-31895171 6

CNVR_33 loss chr17:37949423-37966231 2
CNVR_34 loss chr17:41563921-41719833 1

CNVR_36 loss chr17:77442483-77503679 7

CNVR_31 loss chr17:9181292-9209227 1
CNVR_38 loss chr18:17427868-17502690 3
CNVR_43 gain chr20:14729684-14888687 1

CNVR_44 gain chr21:9887804-10189119 6

CNVR_45 gain chr22:20783684-21598390 6

CNVR_46 gain chr22:22677759-22725505 1
CNVR_76 gain chrX:118921319-118937062 1

CNVR_77 gain chrX:153662541-154582606 15

CNVR_75 gain chrX:2542769-2704239 4

CNVR_74 loss chrX:778291-2704240 12

 Gene ID Overlap Type DISEASE
5195 spanOne ZELLWEGER SYNDROME; ZS
6007 spanBothExon RHESUS BLOOD GROUP, D ANTIGEN; RHD
7140, 7136 within ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
3887; 3892 within MONILETHRIX
4669 spanOne MUCOPOLYSACCHARIDOSIS TYPE IIIB
4148 within EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5
9401 within BALLER-GEROLD SYNDROME; BGS
4851 within T-CELL LYMPHOBLASTIC LEUKEMIA
7499, 1438 spanOne, within LEUKEMIA, ACUTE MYELOID, M2 TYPE
7499 spanOne XG BLOOD GROUP SYSTEM; XG
2157 within HEMOPHILIA A

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
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