11q14.3CNV Type: Deletion-Duplication
Largest CNV size: 148507 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
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
1685656
5
1
6
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
128588
1
1
2
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
444044
0
1
1
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
0
0
0
0
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
34596
1
0
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
103535
6
1
7
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
91030
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
148507
20
3
23
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
2532
1
2
3
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
215130
2
0
2
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
549402
2
1
3
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
0
0
0
0
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
310304
1
1
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
34445
1
0
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)
103535
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.
168090
14
1
15
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
215130
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
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
aCGH (NimbleGen 135K array)
girirajan_13a_DD_discovery_cases
NA
N/A
N/A
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
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
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
None
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
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-case13118_1353
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90316985
90375547
58563
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14256_3790
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90907098
90941693
34596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17034_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91054038
91117964
63927
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18178_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90907098
90941693
34596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3419_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90017077
91702735
1685659
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4512_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91086590
91144326
57737
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1271304
Autism
91063120
91191707
128588
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1327304
Autism
90218342
90309371
91030
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13944.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
89697965
90142009
444045
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case18178_302
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
90907098
90941693
34596
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case168219
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
90175508
90279042
103535
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case58936L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
89019396
89028247
8852
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59800L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
90428380
90490976
62597
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case69002
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
88590589
88609645
19057
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82921L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
89546524
89558793
12270
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82921L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
89473890
89516888
42999
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case83553L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
89631062
89638213
7152
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-005
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: N/A. Intellectual disability: N/A.
90218342
90309371
91030
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11009.p1
9
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
88638771
88647383
8613
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11122.p1
7.8
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
90259953
90271564
11612
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11334.p1
14.6
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
88638771
88655171
16401
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11462.p1
7.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 117; verbal IQ, 121
90259953
90271564
11612
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
91151171
91257947
106777
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
89709171
89752366
43196
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
89883568
89945718
62151
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11773.p1
13.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
90011353
90052496
41144
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11969.p1
14.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
90031648
90080178
48531
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12074.p1
6.3
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
89613247
89639356
26110
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12201.p1
13.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
89887486
89889800
2315
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12257.p1
6
M
ASD
NA
Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
88633140
88655171
22032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
90474836
90623343
148508
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
91996650
92006008
9359
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
90259953
90271564
11612
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12653.p1
11
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
88638771
88650445
11675
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12864.p1
5.8
F
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
91572786
91583665
10880
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12931.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 53; verbal IQ, 45
88638771
88651525
12755
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
88747323
88785096
37774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13120.p1
8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
88747323
88785096
37774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13162.p1
9.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
89887486
89889800
2315
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
89741019
89815054
74036
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13216.p1
4.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
89945483
89969500
24018
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case59
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
88643633
88646164
2532
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case60
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
88800246
88800464
219
GRCh38
Duplication
No
wenger_16_ASD_discovery_cases-case61
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
88800246
88800464
219
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case416
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
88640550
88640901
352
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case417
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
89711259
89926388
215130
GRCh38
Deletion
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
engchuan_15_ASD_discovery_controls-controlB306257_1007873482
N/A
N/A
Control
No previous psychiatric history
90406907
90956309
549403
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB784823_1007875340
N/A
N/A
Control
No previous psychiatric history
91418566
91596405
177840
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
N/A
N/A
Control
No previous psychiatric history
89897800
89945718
47919
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1552
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
89156429
89466732
310304
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1552
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
89822105
89913032
90928
Unknown
Deletion
No
levy_11_ASD_discovery_controls-11707.s1
NA
F
Control
NA
NA
90110578
90145022
34445
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
88638771
88650850
12080
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11267.s1
10.3
M
Control (matched sibling)
NA
NA
88638771
88647383
8613
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11334.s1
12.7
M
Control (matched sibling)
NA
NA
88638771
88647383
8613
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11462.s1
6.5
M
Control (matched sibling)
NA
NA
90259953
90271564
11612
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11466.s1
7.3
F
Control (matched sibling)
NA
NA
91151171
91260690
109520
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11645.s1
11.2
F
Control (matched sibling)
NA
NA
90680454
90848544
168091
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
88638771
88647383
8613
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11707.s1
15.1
F
Control (matched sibling)
NA
NA
90173987
90184760
10774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11839.s1
4
F
Control (matched sibling)
NA
NA
91753352
91754416
1065
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
88638771
88647383
8613
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
88638771
88646164
7394
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
90259953
90271564
11612
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12351.s1
15.3
F
Control (matched sibling)
NA
NA
90017077
90034816
17740
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12976.s1
8.5
M
Control (matched sibling)
NA
NA
88747323
88785096
37774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13120.s1
6.2
M
Control (matched sibling)
NA
NA
88747323
88785096
37774
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13118_1353
Unknown
DISC1FP1
engchuan_15_ASD_discovery_cases-case14256_3790
Unknown
DISC1FP1
engchuan_15_ASD_discovery_cases-case17034_1
Unknown
OSBPL9P2,OSBPL9P3
engchuan_15_ASD_discovery_cases-case18178_302
Unknown
DISC1FP1
engchuan_15_ASD_discovery_cases-case3419_3
Unknown
TRIM49C,UBTFL1,TUBAP2,MIR4490,MIR1261,OSBPL9P2,OSBPL9P3,TRIM64EP,CHORDC1,DISC1FP1,NAALAD2
engchuan_15_ASD_discovery_cases-case4512_1
Unknown
OSBPL9P2,OSBPL9P3
gai_11_ASD_discovery_cases-AU1271304
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1327304
Inherited
TUBAP2,CHORDC1,DISC1FP1
girirajan_13a_ASD_discovery_cases-13944.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
UBTFL10,TRIM77,UBTFL2,TRIM64DP,TRIM51BP,TRIM64B,MTND1P35,TRIM64,TRIM51EP,TRIM49C,UBTFL1,TRIM49,TRIM53BP,TRIM49D2,TRIM53AP,TRIM64EP,FOLH1B,TRIM49D1,NAALAD2
pinto_14_ASD_discovery_cases2-case18178_302
qPCR
Maternal
Simplex
(not tested)
DISC1FP1
prasad_12_ASD_discovery_cases-case168219
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case58936L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59800L
Unknown
Simplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case69002
Unknown
Unknown
Unknown
TYR
prasad_12_ASD_discovery_cases-case82921L
Unknown
Unknown
Unknown
NAALAD2
prasad_12_ASD_discovery_cases-case82921L
Unknown
Unknown
Unknown
NAALAD2
prasad_12_ASD_discovery_cases-case83553L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-005
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
TUBAP2,CHORDC1,DISC1FP1
sanders_11_ASD_discovery_cases-11009.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRM5
sanders_11_ASD_discovery_cases-11122.p1
Paternal
Simplex (trio)
NA
DISC1FP1
sanders_11_ASD_discovery_cases-11334.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GRM5
sanders_11_ASD_discovery_cases-11462.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DISC1FP1
sanders_11_ASD_discovery_cases-11466.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11526.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRIM77
sanders_11_ASD_discovery_cases-11768.p1
Unknown
Simplex (quad-proband matched)
Segregated
MTND1P35,TRIM49D2,TRIM49D1
sanders_11_ASD_discovery_cases-11773.p1
Unknown
Simplex (quad-proband matched)
Segregated
TRIM49C
sanders_11_ASD_discovery_cases-11969.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRIM49C,TRIM64EP
sanders_11_ASD_discovery_cases-12074.p1
Paternal
Simplex (trio)
NA
FOLH1B
sanders_11_ASD_discovery_cases-12201.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12257.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRM5
sanders_11_ASD_discovery_cases-12330.p1
Paternal
Simplex (trio)
NA
MIR4490,DISC1FP1
sanders_11_ASD_discovery_cases-12417.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12472.p1
Paternal
Simplex (trio)
NA
DISC1FP1
sanders_11_ASD_discovery_cases-12653.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRM5
sanders_11_ASD_discovery_cases-12864.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12931.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRM5
sanders_11_ASD_discovery_cases-12976.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRM5
sanders_11_ASD_discovery_cases-13120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GRM5
sanders_11_ASD_discovery_cases-13162.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13175.p1
Paternal
Simplex (quad-proband matched)
Segregated
UBTFL2,TRIM64DP,TRIM49
sanders_11_ASD_discovery_cases-13216.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRIM64
wenger_16_ASD_discovery_cases-case59
Unknown
GRM5
wenger_16_ASD_discovery_cases-case60
Unknown
GRM5
wenger_16_ASD_discovery_cases-case61
Unknown
GRM5
yin_16_ASD_discovery_cases-case416
Unknown
Unknown
Unknown
GRM5
yin_16_ASD_discovery_cases-case417
Unknown
Unknown
Unknown
TRIM77,UBTFL2,TRIM64DP,TRIM51BP,TRIM64B,MTND1P35,TRIM49,TRIM53BP,TRIM49D2,TRIM49D1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB306257_1007873482
Unknown
MIR4490,MIR1261,DISC1FP1
engchuan_15_ASD_discovery_controls-controlB784823_1007875340
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
Unknown
MTND1P35,TRIM49D2,TRIM49D1
kanduri_15_ASD_discovery_controls-control_split1552
Unknown
FOLH1B,NOX4,TRIM77
kanduri_15_ASD_discovery_controls-control_split1552
Unknown
NAALAD2
levy_11_ASD_discovery_controls-11707.s1
Maternal
Simplex
NA
NAALAD2
sanders_11_ASD_discovery_controls-11009.s1
Maternal
Simplex (quad)
NA
GRM5
sanders_11_ASD_discovery_controls-11267.s1
Maternal
Simplex (quad)
NA
GRM5
sanders_11_ASD_discovery_controls-11334.s1
Paternal
Simplex (quad)
NA
GRM5
sanders_11_ASD_discovery_controls-11462.s1
Paternal
Simplex (quad)
NA
DISC1FP1
sanders_11_ASD_discovery_controls-11466.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11645.s1
Paternal
Simplex (quad)
NA
DISC1FP1
sanders_11_ASD_discovery_controls-11666.s1
Maternal
Simplex (quad)
NA
GRM5
sanders_11_ASD_discovery_controls-11707.s1
Maternal
Simplex (quad)
NA
NAALAD2
sanders_11_ASD_discovery_controls-11839.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11843.s1
Maternal
Simplex (quad)
NA
GRM5
sanders_11_ASD_discovery_controls-11918.s1
Maternal
Simplex (quad)
NA
GRM5
sanders_11_ASD_discovery_controls-12198.s1
Both parents
Simplex (quad)
NA
DISC1FP1
sanders_11_ASD_discovery_controls-12351.s1
Maternal
Simplex (quad)
NA
TRIM49C
sanders_11_ASD_discovery_controls-12976.s1
Maternal
Simplex (quad)
NA
GRM5
sanders_11_ASD_discovery_controls-13120.s1
Paternal
Simplex (quad)
NA
GRM5
No Animal Model Data Available