6p25.3-p21.33CNV Type: Deletion
Largest CNV size: 30068543 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
30068543
1
0
1
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
szatmari_07_ASD_discovery_cases-NAAR052-F3-HI0633
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,MIR7853,MIR5683,SNAPC5P1,CNN3P1,BTF3P7,RN7SL554P,HNRNPLP1,PIP5K1P1,RNU6ATAC21P,TFAP2A-AS2,TFAP2A-AS1,LINC00518,MIR5689,MRPL48P1,LINC02522,TMEM14C,RNA5SP203,RNU1-64P,THAP12P5,EDN1,SUMO2P12,RN7SKP293,RPL15P3,LINC02530,RNU1-11P,GFOD1-AS1,RPS4XP7,RN7SKP204,MRPL35P1,RNU7-133P,LINC01108,RNU6-793P,RN7SL332P,JARID2-AS1,RNU6-522P,RNU6-645P,ARPC3P5,LINC02543,MIR4639,MRPL42P2,RNU6-1114P,RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,RNA5SP204,RNU6-263P,DDX18P3,MIR548A1,RPL5P20,RNA5SP205,KRT18P38,UQCRFS1P3,RNU6-801P,ID4,RN7SL128P,E2F3-IT1,RNU6-141P,RNU6-150P,BOLA2P3,NBAT1,PRL,HDGFL1,RNU6-1060P,SPTLC1P2,HNRNPA1P58,KAAG1,RNU6-391P,KRT8P43,GMNN,ARMH2,MTCO2P33,PPIAP29,ASS1P1,RN7SL334P,KATNBL1P5,RNU6-987P,PRELID1P2,HIST1H2AA,HIST1H2BA,HIST1H2BPS1,HIST1H2APS1,HIST1H2APS2,HIST1H1PS2,HIST1H1A,HIST1H3A,HIST1H4A,HIST1H4B,HIST1H3B,HIST1H2AB,HIST1H2BB,HIST1H2APS5,HIST1H3C,HIST1H1C,HFE,HIST1H4C,HIST1H1T,HIST1H1E,LARP1P1,HIST1H4D,HIST1H1PS1,HIST1H3D,HIST1H2AD,HIST1H2BF,HIST1H4E,HIST1H2BG,HIST1H2AE,HIST1H3E,HIST1H2APS3,HIST1H1D,HIST1H4F,HIST1H4G,HIST1H3F,HIST1H2BH,HIST1H3G,HIST1H2APS4,HIST1H2BI,HIST1H3PS1,RNU6-502P,ABT1,POM121L6P,VN1R13P,VN1R11P,RNU2-62P,HIST1H2AG,HIST1H4I,HIST1H2BK,HIST1H2AH,MIR3143,RPL10P2,PRSS16,VN1R10P,ZNF204P,MCFD2P1,HNRNPA1P1,CD83P1,RNU6-471P,RSL24D1P1,HIST1H4PS1,HIST1H2BL,HIST1H2AI,HIST1H3H,HIST1H2AJ,HIST1H2BM,HIST1H4J,HIST1H4K,HIST1H2AK,HIST1H2BPS2,HIST1H2AL,HIST1H1B,HIST1H3I,HIST1H4L,HIST1H3J,HIST1H2AM,HIST1H2BO,RNU7-26P,OR2B2,OR2W6P,OR2B6,RPLP2P1,OR2W4P,IQCB2P,OR2W2P,OR2B7P,OR2B8P,OR1F12,ZSCAN12P1,ZNF602P,ZSCAN16,ZNF603P,ZNF192P2,TOB2P1,NKAPL,ZSCAN26,RNU2-45P,COX11P1,OR2E1P,GPX5,LINC00533,RPSAP2,NOP56P1,LINC01623,RPL13P,ZNF90P2,HCG14,RNU6-930P,LINC01556,KRT18P1,RN7SL471P,HCG15,OR2AD1P,OR2W1,OR2P1P,SAR1AP1,OR2B3,OR2J1,OR2J2,OR2J4P,OR2G1P,OR2U1P,OR2U2P,DDX6P1,OR12D3,OR12D2,OR12D1,OR10C1,UBDP1,MAS1LP1,MAS1L,RPS17P1,LINC01015,GPR53P,OR2H5P,TMEM183AP1,SNORD32B,RPL13AP,SUMO2P1,ZFP57,ZDHHC20P1,RPL23AP1,MICE,IFITM4P,HLA-V,HCG4,HLA-P,RPL7AP7,MICG,HLA-G,HCG4P8,HCP5B,HLA-H,HLA-T,DDX39BP1,MCCD1P1,HCG4B,HLA-K,HLA-U,HLA-A,HLA-W,MICD,HCG9,DDX39BP2,MCCD1P2,HLA-J,PPP1R11,RNF39,TRIM31,TRIM10,TRIM15,PAIP1P1,TRIM26BP,RPP21,HLA-N,UBQLN1P1,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,LY86,RIOK1,DSP,TXNDC5,BLOC1S5,EEF1E1-BLOC1S5,EEF1E1,SLC35B3,TFAP2A,MIR5689HG,C6orf52,PAK1IP1,MAK,SYCP2L,ELOVL2-AS1,SMIM13,ERVFRD-1,TMEM170B,AMD1P4,TBC1D7,SIRT5,MCUR1,RNF182,CD83,MYLIP,STMND1,RBM24,NHLRC1,TPMT,DEK,RNF144B,SOX4,RN7SKP240,NRSN1,MRS2,GPLD1,TDP2,ACOT13,C6orf62,SLC17A4,SLC17A3,SLC17A2,TRIM38,HIST1H2BC,HIST1H2AC,HIST1H2BD,HIST1H2BE,HIST1H4H,BTN3A2,BTN2A2,BTN3A1,BTN2A3P,BTN3A3,BTN1A1,HCG11,HMGN4,ZNF322,GUSBP2,VN1R12P,POM121L2,ZNF184,LINC01012,GPR89P,HIST1H2BN,ZNF165,ZSCAN16-AS1,ZKSCAN8,ZNF192P1,ZSCAN9,ZKSCAN4,PGBD1,ZSCAN31,ZKSCAN3,ZSCAN12,GPX6,TRIM27,ZNF311,OR2J3,OR14J1,OR11A1,OR2H1,OR2I1P,UBD,OR2H2,MOG,HLA-F,HLA-F-AS1,ETF1P1,ZNRD1,TRIM31-AS1,TRIM26,HCG18,TRIM39,TRIM39-RPP21,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,LY86-AS1,RREB1,SNRNP48,BMP6,BLOC1S5-TXNDC5,OFCC1,GCNT2,TMEM14B,GCM2,ELOVL2,NEDD9,ADTRP,HIVEP1,PHACTR1,GFOD1,JARID2,DTNBP1,GMPR,ATXN1,CAP2,NUP153,KDM1B,MIR548A1HG,MBOAT1,E2F3,LINC00581,DCDC2,ALDH5A1,KIAA0319,RIPOR2,CARMIL1,SCGN,SLC17A1,BTN2A1,LINC00240,HIST1H2BJ,ZNF391,ZSCAN23,ZBED9,GABBR1,ZNRD1ASP,TRIM40,HCG17,HLA-L,GMDS,BPHL,LYRM4,F13A1,SSR1,CAGE1,NOL7,RANBP9,KIF13A,CDKAL1,CASC15,OR5V1,CMAHP
Controls
No Control Data Available
No Animal Model Data Available