Spreadsheet: 52e70f5e-d4ed-492d-bc2c-2bf24846ec96
Sheet: Sheet1

OMIM Genes Summary | Unnamed: 1 | Unnamed: 2 | Unnamed: 3 | Unnamed: 4 | Unnamed: 5 | Unnamed: 6
CNV ID | CNV Type | CNV Location | [NAME] | Gene ID | Overlap Type | DISEASE
CNVR_1 | loss | chr1:10599387-10796739 | PEX14 | 5195 | spanOne | ZELLWEGER SYNDROME; ZS
CNVR_3 | gain | chr1:25488723-25521045 | RHD | 6007 | spanBothExon | RHESUS BLOOD GROUP, D ANTIGEN; RHD
CNVR_7 | loss | chr11:1798403-2075695 | TNNT3, TNNI2 | 7140, 7136 | within | ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
CNVR_10 | gain | chr12:50965167-51071800 | [NAME], KRTHB6 | 3887; 3892 | within | MONILETHRIX
CNVR_33 | loss | chr17:37949423-37966231 | NAGLU | 4669 | spanOne | MUCOPOLYSACCHARIDOSIS TYPE IIIB
[NAME] | loss | chr2:19472128-20544415 | [NAME] | 4148 | within | EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5
CNVR_69 | loss | chr8:145652923-145721314 | RECQL4 | 9401 | within | BALLER-GEROLD SYNDROME; BGS
CNVR_71 | loss | chr9:138496247-138577287 | NOTCH1 | 4851 | within | T-CELL LYMPHOBLASTIC LEUKEMIA
CNVR_74 | loss | chrX:[PHONE] | XG, CSF2RA | 7499, 1438 | spanOne, within | LEUKEMIA, ACUTE MYELOID, M2 TYPE
CNVR_75 | gain | chrX:2542769-2704239 | XG | 7499 | spanOne | XG BLOOD GROUP SYSTEM; XG
CNVR_77 | gain | chrX:153662541-154582606 | F8 | 2157 | within | HEMOPHILIA A
RefSeq Genes Summary
CNV ID | CNV Type | CNV Location | # of Genes | [NAME]
CNVR_1 | loss | chr1:10599387-10796739 | 3 | PEX14, SRG, CASZ1
CNVR_5 | gain | chr1:153084977-153149168 | 1 | [NAME]
CNVR_2 | loss | chr1:17081919-17124754 | 1 | CROCC
CNVR_3 | gain | chr1:25488723-25521045 | 1 | RHD
[NAME] | loss | chr2:19472128-20544415 | 7 | MATN3, RHOB, LAPTM4A, WDR35, [NAME], PUM2, TTC32
CNVR_49 | gain | chr3:150633992-150684992 | 1 | TM4SF4
CNVR_48 | loss | chr3:53001754-53013826 | 1 | SFMBT1
[NAME] | gain | chr4:69057535-69166014 | 1 | UGT2B17
CNVR_51 | loss | chr4:841357-954359 | 3 | DGKQ, GAK, TMEM175
[NAME] | gain | chr5:140203240-140216724 | 10 | [NAME], PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8,
[NAME] | gain | chr5:180350918-180362542 | 1 | BTNL3
CNVR_57 | loss | chr6:214735-294386 | 1 | DUSP22
CNVR_58 | gain | chr6:31467627-31565557 | 1 | HCP5
CNVR_59 | gain | chr6:32718791-32732964 | 1 | HLA-DQA1
[NAME] | gain | chr7:134663671-134707686 | 1 | CNOT4
[NAME] | loss | chr7:38234920-38325253 | 2 | TARP, STARD3NL
CNVR_66 | loss | chr8:144691326-144707415 | 1 | ZC3H3
CNVR_67 | loss | chr8:145195417-145299088 | 7 | KIAA1875, GPAA1, SHARPIN, MAF1, EXOSC4, C8orf30A, CYC1
CNVR_68 | loss | chr8:145348220-145484561 | 2 | C8orf30A, BOP1
CNVR_69 | loss | chr8:145652923-145721314 | 9 | CYHR1, FOXH1, GPT, KIFC2, LRRC14, LRRC24, MFSD3, PPP1R16A, RECQL4
CNVR_71 | loss | chr9:138496247-138577287 | 2 | NOTCH1, C9orf163
CNVR_72 | loss | chr9:138809965-138873931 | 5 | LOC389813, [NAME], KIAA1984, PHPT1, C9orf86
CNVR_7 | loss | chr11:1798403-2075695 | 5 | LSP1, SYT8, TNNI2, TNNT3, MRPL23
CNVR_8 | loss | chr11:63495218-63620787 | 3 | COX8A, OTUB1, LRP16
CNVR_10 | gain | chr12:50965167-51071800 | 5 | KRT81, KRT86, KRT84, KRT85, KRT83
CNVR_11 | loss | chr12:81692244-81732514 | 1 | TMTC2
CNVR_15 | loss | chr13:112733655-112742510 | 1 | MCF2L
CNVR_20 | loss | chr14:104778337-104903908 | 3 | BRF1, PACS2, [NAME]
CNVR_21 | gain | chr14:105042939-105839639 | 1 | TMEM121
CNVR_18 | gain | chr14:73091818-73114328 | 2 | HEATR4, ACOT2
CNVR_28 | loss | chr16:68726357-68754434 | 1 | PDPR
CNVR_32 | loss | chr17:31463252-31895171 | 6 | TBC1D3G, CCL4L2, CCL3L3, CCL3L1, TBC1D3C, CCL4L1
CNVR_33 | loss | chr17:37949423-37966231 | 2 | HSD17B1, NAGLU
CNVR_34 | loss | chr17:41563921-41719833 | 1 | [NAME]
[NAME] | loss | chr17:77442483-77503679 | 7 | ANAPC11, MAFG, NPB, PCYT2, PYCR1, [NAME], THOC4
CNVR_31 | loss | chr17:9181292-9209227 | 1 | STX8
CNVR_38 | loss | chr18:17427868-17502690 | 3 | ABHD3, ESCO1, SNRPD1
CNVR_43 | gain | chr20:14729684-14888687 | 1 | C20orf133
CNVR_44 | gain | chr21:9887804-10189119 | 6 | BAGE2, BAGE, TPTE, BAGE5, BAGE3, BAGE4
CNVR_45 | gain | chr22:20783684-21598390 | 6 | [NAME], PRAME, SUHW2, GGTL4, VPREB1, SUHW1
CNVR_46 | gain | chr22:22677759-22725505 | 1 | GSTT1
[NAME] | gain | chrX:118921319-118937062 | 1 | AKAP14
CNVR_77 | gain | chrX:153662541-154582606 | 15 | BRCC3, CLIC2, F8, F8A1, F8A2, F8A3, [NAME], H2AFB1, H2AFB2, H2AFB3, [NAME], [NAME], RAB39B, TMLHE, VBP1
CNVR_75 | gain | chrX:2542769-2704239 | 4 | XG, CD99
CNVR_74 | loss | chrX:[PHONE] | 12 | ASMT, ASMTL, CD99, CRLF2, CSF2RA, CXYorf3, DHRSX, IL3RA, P2RY8, SLC25A6, XG, ZBED1