1p36.33-p36.13CNV Type: Duplication
Largest CNV size: 16386000 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
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
16386000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
shen_10_ASD_discovery_cases-ASD-09-024
Unknown
NA
NA
TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RNA5SP40,PIK3CD-AS1,MZT1P1,RN7SKP269,MIR5697,PGAM1P11,RNU6-828P,RNU6-37P,RN7SL731P,CORT,RN7SL614P,HSPE1P24,CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,MIR4632,RPL10P17,SNORA59A,RNU6ATAC18P,MIR6730,AADACL3,PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF17,BRWD1P1,RNA5SP41,RNU6-1265P,TBCAP2,C1orf195,CTRC,SCARNA21B,CHCHD2P6,RNU7-179P,CD24P1,RSC1A1,SLC25A34,RPL12P14,UQCRHL,HSPB7,ARHGEF19-AS1,MT1XP1,RPL22P3,RNU1-1,LINC01783,RNU1-6P,RNU1-3,EIF1AXP1,RNU1-4,MIR3675,RNU1-5P,RNU1-2,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,TAS1R1,ZBTB48,KLHL21,PHF13,THAP3,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,TMEM201,PIK3CD-AS2,CLSTN1,CTNNBIP1,LZIC,RBP7,PGD,CENPS-CORT,CENPS,DFFA,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,AADACL4,C1orf158,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15,PRAMEF20,PDPN,KAZN-AS1,TMEM51-AS1,EFHD2,CASP9,DNAJC16,AGMAT,DDI2,SLC25A34-AS1,TMEM82,FBLIM1,FLJ37453,ZBTB17,SRARP,CLCNKA,CLCNKB,FAM131C,EPHA2,ARHGEF19,ANO7L1,CPLANE2,SPATA21,NECAP2,LINC01772,CROCCP3,NBPF1,ESPNP,CROCCP4,MST1L,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,SLC2A5,MIR34AHG,SPSB1,SLC25A33,PIK3CD,NMNAT1,UBE4B,KIF1B,CASZ1,MTOR,FBXO6,MTHFR,TNFRSF1B,VPS13D,PRAMEF19,LRRC38,PRDM2,TMEM51,FHAD1,CELA2A,CELA2B,SPEN,TBC1D3P6,FBXO42,SZRD1,CROCCP2,MST1P2,AGRN,PRKCZ,PRDM16,ACOT7,CAMTA1,PEX14,DISP3,DHRS3,KAZN,PLEKHM2,RERE,CROCC
Controls
No Control Data Available
No Animal Model Data Available