16p13.13CNV Type: Deletion-Duplication
Largest CNV size: 445559 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
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.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
445558
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
43302
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
445559
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
448315
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
56340
4
3
7
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
27975
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
448315
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
48715
1
1
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
engchuan_15_ASD_discovery_cases-case5456_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11638299
12083856
445558
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11526.p1
NA
M
ASD
NA
NA
11969645
12012946
43302
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5456_3
NA
M
ASD
NA
NA
11638299
12083856
445558
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case106392
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
11637257
12085571
448315
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
12322462
12330775
8314
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
11977484
12005000
27517
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11581.p1
5.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
10656691
10670588
13898
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11641.p1
8.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 82
11009574
11012201
2628
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12264.p1
8
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
10306429
10331200
24772
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12349.p1
4.9
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
11488714
11545054
56341
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12739.p1
6.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
11513941
11542450
28510
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
nord_11_ASD_discovery_controls-04C27265
Control
12078180
12106154
27975
Unknown
Duplication
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
11822775
11826180
3406
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11521.s1
15.1
F
Control (matched sibling)
NA
NA
11497967
11546682
48716
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case5456_3
Unknown
SNN,BCAR4,COX6CP1,TNFRSF17,UBL5P4,RPS23P6,TXNDC11,RSL1D1,GSPT1,ZC3H7A,NPIPB2,SNX29
levy_11_ASD_discovery_cases-11526.p1
Maternal
Simplex
Segregated
NPIPB2,SNX29
pinto_10_ASD_discovery_cases-case5456_3
Agilent1M
paternal
NA
NA
SNN,BCAR4,COX6CP1,TNFRSF17,UBL5P4,RPS23P6,TXNDC11,RSL1D1,GSPT1,ZC3H7A,NPIPB2,SNX29
prasad_12_ASD_discovery_cases-case106392
Unknown
Unknown
Unknown
RUNDC2A,GSPT1,ZC3H7A,SNN,TXNDC11,TNFRSF17,RSL1D1,SNX29,BCAR4
sanders_11_ASD_discovery_cases-11289.p1
Paternal
Simplex (quad-proband matched)
Segregated
SNX29
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Segregated
SNX29
sanders_11_ASD_discovery_cases-11581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TEKT5
sanders_11_ASD_discovery_cases-11641.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLEC16A
sanders_11_ASD_discovery_cases-12264.p1
Maternal
Simplex (trio)
NA
ATF7IP2
sanders_11_ASD_discovery_cases-12349.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12739.p1
Paternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C27265
SNX29
sanders_11_ASD_discovery_controls-11012.s1
Maternal
Simplex (quad)
NA
BCAR4
sanders_11_ASD_discovery_controls-11521.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available