4q31.21-q33CNV Type: Duplication
Largest CNV size: 25264000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication of unknown origin spanning this region was identified in a Chinese ASD proband in Fan et al., 2019.
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
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
25264000
0
1
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
fan_19_ASD_discovery_cases-caseASD215
9 yrs. 11 mos.
M
ASD
CARS score 30.5 (mild severity)
144228585
169493070
25264486
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
fan_19_ASD_discovery_cases-caseASD215
Unknown
Unknown
Unknown
HSPD1P5,RN7SKP235,RPS23P4,LINC02266,RTN3P1,NMNAT1P4,SMAD1-AS2,SMAD1-AS1,NCOA4P3,MIR7849,RNU1-44P,POU4F2,MIR548G,PRMT5P1,GTF2F2P1,RNA5SP165,MIR4799,RN7SL254P,ASS1P8,RNA5SP166,ATP5MGP4,RNU7-197P,LINC02430,AKIRIN2P1,RNA5SP167,RNU6-1230P,RNU7-194P,MAB21L2,ZBTB8OSP1,RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,RNU6-1282P,FAM160A1-DT,RN7SKP35,RNA5SP169,LINC02273,RN7SL446P,FBXW7-AS1,MIR3140,MIR4453HG,MIR4453,TIGD4,FAM192BP,RNU6-1196P,ANXA2P1,RN7SL419P,WDR45P1,SFRP2,RNU6-1285P,FGA,FGG,NDUFB2P1,RNU2-66P,RNU2-44P,NPY2R,YWHAEP4,MTCYBP17,MTND6P17,MTND5P9,MTND4P8,MTND3P3,MTCO3P9,MTATP6P9,MTCO2P9,MTCO1P9,MTND2P33,MTND1P22,FTH1P21,LINC02272,RPPH1-3P,RNU6-582P,LINC02433,NUDT19P5,RNU4-79P,C4orf46,RNU6-128P,FABP5P12,MIR3688-1,MIR3688-2,RPS14P7,MTHFD2P4,TOMM22P4,MIR4454,RPL35AP12,TKTL2,RN7SKP105,ANP32C,RNU6-284P,RNU6-668P,TRIM60P14,FAM218BP,NACA3P,FAM218A,TRIM75P,RNU4-87P,GK3P,MIR578,HADHAP1,SCGB1D5P,NOL8P1,RNA5SP170,RNA5SP171,RN7SL776P,PHBP14,RN7SKP188,BTF3L4P4,RNU6-1336P,RPL9P16,RNU6-853P,RNY4P17,RPL6P12,HHIP-AS1,ABCE1,OTUD4,LINC01095,LSM6,REELD1,EDNRA,TMEM184C,PRMT9,PRSS48,GATB,TMEM154,TLR2,PLRG1,FGB,MAP9,GUCY1B1,TDO2,CTSO,FAM198B-AS1,ETFDH,PPID,NAF1,NPY1R,NPY5R,TMA16,TRIM61,MSMO1,LINC01179,KRT18P51,ANAPC10,SMAD1,MMAA,ZNF827,SLC10A7,LINC02507,NR3C2,LINC02355,IQCM,DCLK2,SH3D19,FAM160A1,FBXW7,ARFIP1,FHDC1,TRIM2,MND1,TMEM131L,RNF175,DCHS2,LRAT,RBM46,GUCY1A1,ASIC5,PDGFC,GLRB,TMEM144,FNIP2,C4orf45,RAPGEF2,LINC02233,LINC02477,SMIM31,APELA,TRIM60,TMEM192,KLHL2,CPE,TLL1,SPOCK3,ANXA10,DDX60,DDX60L,CBR4,SH3RF1,NEK1,HHIP,C4orf51,TTC29,ARHGAP10,GRIA2,RXFP1,FSTL5,MARCH1,PALLD,LRBA
Controls
No Control Data Available
No Animal Model Data Available