4p11CNV Type: Duplication
Largest CNV size: 548975 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
268316
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
548975
0
5
5
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
500000
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
548975
0
3
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gazzellone_14_ASD_discovery_cases-case694-3
4 yrs.
M
ASD
ASD; no other clinical information provided
N/A
48823440
49091756
268317
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
49116397
49649003
532607
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
49100139
49322986
222848
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
49100139
49649114
548976
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12543.p1
8.9
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 67
49116397
49322986
206590
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12565.p1
10.6
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
49116397
49322986
206590
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
leppa_16_ASD_discovery_controls-AU2581303
N/A
M
Control
Unaffected sibling
48566983
49064983
498001
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11444.s1
19.5
F
Control (matched sibling)
NA
NA
49179946
49649003
469058
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
49100139
49322986
222848
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12478.s1
14.5
M
Control (matched sibling)
NA
NA
49100139
49649114
548976
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gazzellone_14_ASD_discovery_cases-case694-3
Unknown
Unknown
Unknown
RNU6-158P,TPI1P4,OCIAD1,OCIAD1-AS1,OCIAD2,CWH43
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
MTCO3P39,MTND3P22,ANKRD20A17P,MTCO3P42,SNX18P25,SNX18P23,SNX18P24
sanders_11_ASD_discovery_cases-11644.p1
Both parents
Simplex (quad-proband matched)
Segregated
MTCO3P39,MTND3P22,SNX18P23
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
MTCO3P39,MTND3P22,ANKRD20A17P,MTCO3P42,SNX18P25,SNX18P23,SNX18P24
sanders_11_ASD_discovery_cases-12543.p1
Maternal
Simplex (trio)
NA
MTCO3P39,MTND3P22,SNX18P23
sanders_11_ASD_discovery_cases-12565.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MTCO3P39,MTND3P22,SNX18P23
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
leppa_16_ASD_discovery_controls-AU2581303
Maternal
Simplex
RNU5E-3P,RNU6-158P,TPI1P4,OCIAD1,OCIAD1-AS1,FRYL,OCIAD2,CWH43
sanders_11_ASD_discovery_controls-11444.s1
Unknown
Simplex (quad)
NA
MTCO3P39,MTND3P22,ANKRD20A17P,MTCO3P42,SNX18P25,SNX18P23,SNX18P24
sanders_11_ASD_discovery_controls-11935.s1
Unknown
Simplex (quad)
NA
MTCO3P39,MTND3P22,SNX18P23
sanders_11_ASD_discovery_controls-12478.s1
Unknown
Simplex (quad)
NA
MTCO3P39,MTND3P22,ANKRD20A17P,MTCO3P42,SNX18P25,SNX18P23,SNX18P24
No Animal Model Data Available