20q13.31-q13.33CNV Type: Duplication
Largest CNV size: 6760169 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 20q13.31-q13.33 duplication was identified in a Chinese Han ASD proband (Guo et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
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
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
6760169
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
guo_17_ASD_discovery_cases-caseM9118
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
57657527
64324360
6666834
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guo_17_ASD_discovery_cases-caseM9118
qPCR
De novo
NKILA,LINC01742,C20orf85,ANKRD60,LINC01711,MIR296,MIR298,TUBB1,PRELID3B,PIEZO1P1,RNU7-141P,FAM217B,PPP1R3D,MIR646,MTCO2P1,MIR4533,MIR548AG2,MIR1257,MIR3195,PSMA7,HRH3,MIR4758,LAMA5-AS1,RPS21,MIR1-1HG-AS1,MIR1-1,MIR133A2,RPL7P3,SLCO4A1-AS1,LINC00686,LINC00659,OGFR-AS1,OGFR,DPH3P1,ARF4P2,BHLHE23,LINC00029,HAR1B,HAR1A,MIR124-3,BIRC7,MIR3196,MIR4326,RNU6-994P,EEF1A2,SRMS,MHENCR,TNFRSF6B,LIME1,SLC2A4RG,C20orf181,ABHD16B,RNU1-134P,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MIR941-5,MIR1914,MIR647,UCKL1-AS1,C20orf204,SOX18,MIR6813,LKAAEAR1,NPBWR2,PPP4R1L,VAPB,APCDD1L,STX16,STX16-NPEPL1,NPEPL1,PIEZO1P2,GNAS-AS1,CTSZ,ATP5F1E,EDN3,C20orf197,SS18L1,MTG2,ADRM1,LAMA5,RBBP8NL,GATA5,MIR1-1HG,NTSR1,MRGBP,COL9A3,TCFL5,GID8,SLC17A9,YTHDF1,NKAIN4,FLJ16779,ARFGAP1,CHRNA4,PPDPF,PTK6,FNDC11,GMEB2,STMN3,RTEL1,RTEL1-TNFRSF6B,ZGPAT,ZBTB46,ZBTB46-AS1,TPD52L2,DNAJC5,UCKL1,SAMD10,PRPF6,TCEA2,RGS19,PCMTD2,CICP4,LINC00266-1,RAB22A,APCDD1L-DT,GNAS,NELFCD,MRPS16P2,ZNF831,SYCP2,CDH26,MIR646HG,LINC01718,TAF4,LSM14B,OSBPL2,CABLES2,SLCO4A1,LINC01749,LINC01056,COL20A1,KCNQ2,HELZ2,ARFRP1,OPRL1,MYT1,PMEPA1,PHACTR3,CDH4,DIDO1,ZNF512B
Controls
No Control Data Available
No Animal Model Data Available