Coriell Institute for Medical Research

Click here to order and for additional panel information.

Copy Number Variation Panel - CNVPANEL01

The biomaterials currently available for this panel are shown in the table below:

Catalog IDCell TypeDescriptionISCNGenderFamily
GM06936B-LymphocyteCHROMOSOME DELETION46,XX,del(10)(p13)[20]Female974
GM06870B-LymphocyteANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC47,XX,+i(18)(p10).arr[hg19] 18p11.32p11.1(11542-15401751)x4Female966
GM06226B-LymphocyteTRANSLOCATED CHROMOSOME46,XY,der(1)t(1;16)(q44;p12)mat.arr 1q44(245373155-247190999)x1,16p13.3p12.2(25815-21297471)x3,16p12.1(21853546-22612021)x3Male932
GM05067B-LymphocyteANEUPLOID CHROMOSOME NUMBER - TRISOMY 947,XY,+9,del(9)(q11)[20]Male602
GM01416B-LymphocyteXXXX SYNDROME48,XXXX.arr(X)x4,(Y)x0Female370
GM16595B-LymphocyteCRI-DU-CHAT SYNDROME46,XX,del(5)(p15.2p14).ish del(5)(p15.2p14)(C84C11T7+,D5S721-,D5S23-,EGR1+).arr 5p15.2p14.2(8686804-24072399)x1Female3454
GM20556B-LymphocyteISODICENTRIC CHROMOSOME47,XY,+idic(15)(q13).ish idic(15)(q13)(D15Z1++,D15S11++,GABRB3++).arr Yq11.223q11.23(23920264-27079691)x2,15q11.1q13.3(18276329-30557740)x4Male2515
GM09216B-LymphocyteCHROMOSOME DELETION46,XY,del(2)(p25.1p23).arr 2p25.1p23.3(10260988-27005382)x1,4q31.22(145061542-145162384)x1Male2124
GM16362B-LymphocyteANEUPLOID CHROMOSOME NUMBER - TRISOMY47,XY,+del(22)(q11.2q13.3).ish del(22)(q11.2q13.3)(D22Z1+,TUPLE1-,EWSR1-,ARSA+,D22S1726+).arr 22q11.1q11.21(15847411-20903975)x3,22q11.22(20645077-20903975)x1,22q13.2q13.33(41609558-49581309)x3Male1925
GM14943B-LymphocyteCHROMOSOME DELETION46,XY,del(2)(pter>2q37:).ish del(2) (D2S447-,D2Z4-)Male1809
GM11419B-LymphocyteANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC49,XYYYY.arr Xp22.33(109805-2704240)x4,Xq28(154616633-154887040)x4,Yp11.31q12(2712722-27209311)x4,4q31.22(145040166-145270061)x3Male1383
GM10989B-LymphocyteGILLES DE LA TOURETTE SYNDROME; GTS46,XY,del(9)(p23).ish del(9)(p23)(9ptel30-,D9Z+,wcp9+).arr 9p24.3p23(36587-11986831)x1Male1316
GM10925B-LymphocyteGREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS46,XY,del(7)(p14p12).arr 7p14.1p11.2(38598541-54681998)x1Male1313
GM22624B-LymphocytePOTOCKI-SHAFFER SYNDROME46,XX,del(11)(pter->p12::p11.2->qter).arr 11p12p11.2(40433344-46031324)x1Female 
GM09888B-LymphocyteTRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 (LANGER-GIEDION SYNDROME; LGS)46,XX,del(8)(q23q24.1)[20]Female 
GM09367B-LymphocyteDUPLICATED CHROMOSOME46,XX,dup(6)(q21q24).ish dup(6)(q21q24)(wcp6+).arr 6q21q24.2(107861056-143105847)x3Female 
GM14164B-LymphocyteTETRALOGY OF FALLOT46,XX,del(13)(q13q31)[20]Female 
GM20027B-LymphocyteTURNER SYNDROME45,X.arr[hg19](1-22)x2,(X)x1Female 
GM11213B-LymphocyteCHROMOSOME DELETION46,XX,del(2)(q32.1q33).arr 2q32.1q33.2(186818448-204311174)x1Female 
GM10985B-LymphocyteCHROMOSOME DELETION46,XX,del(3)(p25).arr 3p26.3p25.3(35333-10305377)x1Female 
GM10636B-LymphocyteDUPLICATED CHROMOSOME46,X,dup(X)(pter>p11.1::p11.3>qter).ish dup(X)(STS+,DXZ1++,wcpX+)Female 
GM13476B-LymphocyteSMITH-MAGENIS SYNDROME; SMS46,XX.ish del(17)(p11.2p11.2)(D17S29-).arr 17p11.2(16704280-20336467)x1Female 
GM13019B-LymphocyteTURNER SYNDROME46,X,idic(X)(p10)[25]/46,X,del(X)(p10)[16]/45,X[9].arr Xp22.33p11.1(108464-56912309)x1,Xp11.1q28(62260103-153703648)x2˜3Female 
GM21887B-LymphocyteANGELMAN SYNDROME; AS46,XX,del(15)(q11q13).ish del(15)(q11q13)(D15Z1+,SNRPN-,[D15S10/UBE]-,GABRB3-,PML+).arr 15q11.2q13.1(20224751-26500067)x1Female 
GM22991B-LymphocyteCHROMOSOME 1P36 DELETION SYNDROME46,XX.ish del(1)(p36.32)(CEB108/T7-,SKI-,D1S3739+).arr 1p36.32(742429-5215341)x1Female 
GM12606B-LymphocyteCHROMOSOME DELETION47,XY,+del(13)(q21.2).arr 13q11q21.2(17943628-59139422)x3Male 
GM09102B-LymphocyteCHROMOSOME DELETION46,XY,del(11)(q23.3).arr 11q23.3q25(119996189-134449982)x1Male 
GM17942B-LymphocyteDIGEORGE SYNDROME; DGS46,XY[20].arr[GRCh37] 22q11.21(18748427_21611337)x1Male 
GM08331B-LymphocyteCHROMOSOME DELETION46,XY,del(13)(pter->q31::q34->qter).arr[hg19] 13q32.1q33.3(98158969-110263569)x1,21q21.3(27316123-29519188)x1Male 
GM11672B-LymphocyteCHROMOSOME DELETION46,XY,del(10)(q11.2q22.1).arr 10q11.22q22.2(48962457-75120713)x1Male 
GM13464B-LymphocyteWILLIAMS-BEUREN SYNDROME; WBS46,XY.arr[hg19]7q11.23(72,699,583-74,259,618)x1Male 
GM05966B-LymphocyteDERIVATIVE CHROMOSOME46,XY,dup(14)(pter->q24::q22->qter).arr[hg19]14q22.2q24.3(54,953,370-76,136,883)x3Male 
GM20022B-LymphocyteDUPLICATED CHROMOSOME46,XY,dup(3)(q21q29).ish dup(3)(q21q29)(wcp3+,D3S4560+).arr 3q22.2q29(136044785-197137370)x3Male 
GM15603B-LymphocyteUNIPARENTAL DISOMY CHROMOSOME 846,XY.arr[hg19]8p23.3p23.1(161,221-6,815,328)hmz,8p23.1p11.21(8,087,143-42,858,299)hmzMale 
GM07945B-LymphocyteADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY46,XY,del(20)(q12q13.1).arr 13q12.11(19701062-19932295)x1,20q11.22q13.12(32961915-44293878)x1Male 
GM22601B-LymphocyteWOLF-HIRSCHHORN SYNDROME; WHS46,XY,del(4)(p15.2).arr 4p16.3p15.2(55665-25591051)x1Male 
GM21699B-LymphocyteCHROMOSOME DELETION47,XY,+4,del(6)(pter>q26:)[7]/46,XY,del(6)(pter>q26:)[3].ish del(6)(wcp6+,D62522-)Male 
GM17867B-LymphocyteXXY SYNDROME; KLINEFELTER SYNDROME47,XXY.arr(X)x2,(Y)x1Male 
GM10800B-LymphocyteCHROMOSOME DELETION46,XY,del(4)(q13.2q22).arr 4q13.2q22.2(70096438-95297116)x1Male 
GM14485B-LymphocyteINVERTED DUPLICATION DELETION46,XY,der(8)del(8)(p23.3)dup(8)(:p23.1->p11.2::p23.1->qter).arr[hg19]8p23.1p11.1(12528415-43604474)x3,8p23.3p23.1(46385-7171085)x1Male 
GM21698B-LymphocyteCHROMOSOME DELETION46,XY,del(6)(q26).ish del(6)(q26)(wcp6+,D62522-).arr 6q26q27(162860228-170761408)x1Male 
GM10608B-LymphocyteCHROMOSOME DELETION46,XY,del(20)(pter>p12.2::p11.23>qter) or 46,XY,del(20)(pter>p13::p12.2>qter)Male 
GM12662B-LymphocyteCHROMOSOME DELETION46,dup(X)(q28),del(Y)(q11.2).ish del(Y)(q11.2)(DXYS129/DXYS153+,SRY+,DYZ3+,DYZ1+,Z43206+).arr Xq28(151659961-154582680)x2,Yq11.223q11.23(22769319-27097245)x0Male 

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 ● (856) 757-4848

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2023 Coriell Institute. All rights reserved.