5q31.2-q31.3CNV Type: Duplication
Largest CNV size: 275000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
N/A
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
275000
0
1
1
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
690000
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
3051894
N/A
N/A
2
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
None
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
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
girirajan_13a_ASD_discovery_cases-11483.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
139630231
139910231
280001
GRCh38
Duplication
No
kim_18_DD/ID_discovery_cases-case17
0.1 yr.
F
Developmental delay and epilepsy
Dysmorphic features, epilepsy, hypotonia
Developmental delay
139554983
140245248
690266
GRCh38
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case39
10 yrs.
M
ASD and intellectual disability
ASD
Intellectual disability
138164975
141172977
3008003
GRCh38
Homozygous CNV
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13a_ASD_discovery_cases-11483.p1
Unknown
Simplex
Unknown
CXXC5-AS1,RNU6-236P,PSD2-AS1,CXXC5,PSD2,NRG2
kim_18_DD/ID_discovery_cases-case17
De novo
CXXC5-AS1,RNU6-236P,PSD2-AS1,IGIP,CXXC5,PSD2,MALINC1,UBE2D2,NRG2,PURA,CYSTM1,PFDN1
lee_17_ASD/DD/ID/MCA_discovery_cases-case39
Unknown
RPS27AP18,EGR1,RPL7P19,SNORD63,RNA5SP194,RPL12P21,RNU6-572P,SNORA74D,SNORA74A,RNA5SP195,RN7SKP64,MZB1,SPATA24,RNU5B-4P,SMIM33,NCOA4P4,CXXC5-AS1,RNU6-236P,PSD2-AS1,IGIP,RNU4-14P,EIF4EBP3,MIR6831,SLC35A4,HAUS1P1,CD14,MIR3655,HARS2,VTRNA1-1,VTRNA1-2,VTRNA1-3,PCDHA14,PCDHB1,PCDHB2,PCDHB3,PCDHB4,PCDHB5,PCDHB6,PCDHB17P,PCDHB7,KIF20A,CDC23,GFRA3,CDC25C,FAM53C,REEP2,HSPA9,LRRTM2,SNHG4,PAIP2,SLC23A1,PROB1,DNAJC18,TMEM173,CXXC5,PSD2,MALINC1,HBEGF,SLC4A9,SRA1,APBB3,IK,WDR55,DND1,HARS,ZMAT2,PCDHAC1,PCDHAC2,BRD8,ETF1,CTNNA1,SIL1,MATR3,UBE2D2,NRG2,PURA,CYSTM1,PFDN1,NDUFA2,TMCO6,PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHA10,PCDHA11,PCDHA12,PCDHA13,KDM3B,ECSCR,ANKHD1,ANKHD1-EIF4EBP3
Controls
No Control Data Available
No Animal Model Data Available