NIGMS Collection - Copy Number Variation Panel

Catalog ID	Cell Type	Description	ISCN	Gender	Family
GM06936	B-Lymphocyte	CHROMOSOME DELETION	46,XX,del(10)(p13)[20]	Female	974
GM06870	B-Lymphocyte	ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC	47,XX,+i(18)(p10).arr[hg19] 18p11.32p11.1(11542-15401751)x4	Female	966
GM06226	B-Lymphocyte	TRANSLOCATED CHROMOSOME	46,XY,der(1)t(1;16)(q44;p12)mat.arr 1q44(245373155-247190999)x1,16p13.3p12.2(25815-21297471)x3,16p12.1(21853546-22612021)x3	Male	932
GM05067	B-Lymphocyte	ANEUPLOID CHROMOSOME NUMBER - TRISOMY 9	47,XY,+9,del(9)(q11)[20]	Male	602
GM01416	B-Lymphocyte	XXXX SYNDROME	48,XXXX	Female	370
GM16595	B-Lymphocyte	CRI-DU-CHAT SYNDROME	46,XX,del(5)(p15.2p14).ish del(5)(p15.2p14)(C84C11T7+,D5S721-,D5S23-,EGR1+).arr 5p15.2p14.2(8686804-24072399)x1	Female	3454
GM20556	B-Lymphocyte	ISODICENTRIC CHROMOSOME	47,XY,+idic(15)(q13).ish idic(15)(q13)(D15Z1++,D15S11++,GABRB3++).arr Yq11.223q11.23(23920264-27079691)x2,15q11.1q13.3(18276329-30557740)x4	Male	2515
GM09216	B-Lymphocyte	CHROMOSOME DELETION	46,XY,del(2)(pter>p25.1::p23.3>qter).ish del(2)(D2S447+)	Male	2124
GM16362	B-Lymphocyte	ANEUPLOID CHROMOSOME NUMBER - TRISOMY	47,XY,+del(22)(q11.2q13.3)[20]	Male	1925
GM14943	B-Lymphocyte	CHROMOSOME DELETION	46,XY,del(2)(q37.1).ish del(2)(q37.1q37.3)(D2S447-,D2Z4-).arr 2q37.1q37.3(234941780-242738117)x1	Male	1809
GM11419	B-Lymphocyte	ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC	49,XYYYY	Male	1383
GM10989	B-Lymphocyte	GILLES DE LA TOURETTE SYNDROME; GTS	46,XY,del(9)(p23).ish del(9)(p23)(9ptel30-,D9Z+,wcp9+).arr 9p24.3p23(36587-11986831)x1	Male	1316
GM10925	B-Lymphocyte	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS	46,XY,del(7)(p14p12).arr 7p14.1p11.2(38598541-54681998)x1	Male	1313
GM22624	B-Lymphocyte	POTOCKI-SHAFFER SYNDROME	46,XX,del(11)(p11.2p12)[20].arr[GRCh37]11p12p11.2(40476767_46074748)x1	Female
GM09888	B-Lymphocyte	TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 (LANGER-GIEDION SYNDROME; LGS)	46,XX,del(8)(q23q24.1)[20]	Female
GM09367	B-Lymphocyte	DUPLICATED CHROMOSOME	46,XX,dup(6)(q21q24).ish dup(6)(q21q24)(wcp6+).arr 6q21q24.2(107861056-143105847)x3	Female
GM14164	B-Lymphocyte	TETRALOGY OF FALLOT	46,XX,del(13)(q13q31)[20]	Female
GM20027	B-Lymphocyte	TURNER SYNDROME	45,X.arr[hg19](1-22)x2,(X)x1	Female
GM11213	B-Lymphocyte	CHROMOSOME DELETION	46,XX,del(2)(q32.1q33).arr 2q32.1q33.2(186818448-204311174)x1	Female
GM10985	B-Lymphocyte	CHROMOSOME DELETION	46,XX,del(3)(p25).arr 3p26.3p25.3(35333-10305377)x1	Female
GM10636	B-Lymphocyte	DUPLICATED CHROMOSOME	46,X,dup(X)(p11.1p11.3)[17].arr[GRCh37] Xp11.4p11.1(39822172_58561918)x3	Female
GM13476	B-Lymphocyte	SMITH-MAGENIS SYNDROME; SMS	46,XX,del(17)(p11.2p11.2)[19]	Female
GM13019	B-Lymphocyte	TURNER SYNDROME	46,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˜3	Female
GM21887	B-Lymphocyte	ANGELMAN SYNDROME; AS	46,XX,del(15)(q11q13).ish del(15)(q11q13)(D15Z1+,SNRPN-,[D15S10/UBE]-,GABRB3-,PML+).arr 15q11.2q13.1(20224751-26500067)x1	Female
GM22991	B-Lymphocyte	CHROMOSOME 1P36 DELETION SYNDROME	46,XX.ish del(1)(p36.32)(CEB108/T7-,SKI-,D1S3739+).arr 1p36.32(742429-5215341)x1	Female
GM12606	B-Lymphocyte	CHROMOSOME DELETION	47,XY,+del(13)(q21.2).arr 13q11q21.2(17943628-59139422)x3	Male
GM09102	B-Lymphocyte	CHROMOSOME DELETION	46,XY,del(11)(q23.3).arr 11q23.3q25(119996189-134449982)x1	Male
GM17942	B-Lymphocyte	DIGEORGE SYNDROME; DGS	46,XY[20].arr[GRCh37] 22q11.21(18748427_21611337)x1	Male
GM08331	B-Lymphocyte	CHROMOSOME DELETION	46,XY,del(13)(q32q33).arr[hg19] 13q32.1q33.3(98158969-110263569)x1,21q21.3(27316123-29519188)x1	Male
GM11672	B-Lymphocyte	CHROMOSOME DELETION	46,XY,del(10)(pter>q11.1::q22.1>qter)	Male
GM13464	B-Lymphocyte	WILLIAMS-BEUREN SYNDROME; WBS	46,XY.arr[hg19]7q11.23(72,699,583-74,259,618)x1	Male
GM05966	B-Lymphocyte	DERIVATIVE CHROMOSOME	46,XY,dup(14)(q22q24).arr[hg19]14q22.2q24.3(54,953,370-76,136,883)x3	Male
GM20022	B-Lymphocyte	DUPLICATED CHROMOSOME	46,XY,dup(3)(q21q29).ish dup(3)(q21q29)(wcp3+,D3S4560+).arr 3q22.2q29(136044785-197137370)x3	Male
GM15603	B-Lymphocyte	UNIPARENTAL DISOMY CHROMOSOME 8	46,XY.arr[hg19]8p23.3p23.1(161,221-6,815,328)hmz,8p23.1p11.21(8,087,143-42,858,299)hmz	Male
GM07945	B-Lymphocyte	ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY	46,XY,del(20)(pter>q13.1::q13.3>qter).ish del(20)(20QTEL14+).arr cgh 20q13.1q13.3(CN_874692,SNP_A_2089662)x1	Male
GM22601	B-Lymphocyte	WOLF-HIRSCHHORN SYNDROME; WHS		Male
GM21699	B-Lymphocyte	CHROMOSOME DELETION	47,XY,+4,del(6)(q26)[7]/46,XY,del(6)[3].ish del(6)(q26)(wcp6+,D62522-).arr 3p26.3(35333-581054)x3,4p16.3q35.2(3277-191195124)x2~3,6q26q27(163582043-170824447)x1	Male
GM17867	B-Lymphocyte	XXY SYNDROME; KLINEFELTER SYNDROME	47,XXY	Male
GM10800	B-Lymphocyte	CHROMOSOME DELETION	46,XY,del(4)(q13.2q22).arr 4q13.2q22.2(70096438-95297116)x1	Male
GM14485	B-Lymphocyte	INVERTED DUPLICATION DELETION	46,XY,der(8)del(8)(p23.3)dup(8)(p23.1p11.2).arr[hg19]8p23.1p11.1(12528415-43604474)x3,8p23.3p23.1(46385-7171085)x1	Male
GM21698	B-Lymphocyte	CHROMOSOME DELETION	46,XY,del(6)(q26).ish del(6)(q26)(wcp6+,D62522-).arr 6q26q27(162860228-170761408)x1	Male
GM10608	B-Lymphocyte	CHROMOSOME DELETION	46,XY,del(20)(p12p11.2).arr 20p12.2p11.23(9820603-17979469)x1	Male
GM12662	B-Lymphocyte	CHROMOSOME DELETION	46,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)x0	Male