16q12.2CNV Type: Deletion-Duplication
Largest CNV size: 360865 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
7717
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
13000
1
0
1
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
38266
5
0
5
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
24102
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
402692
2
0
2
gregory_09_ASD_discovery_cases
Probands from multiplex autism families
119
Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
78.15% Male
360865
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
26056
2
1
3
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
34198
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
179910
0
8
8
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
23763
1
0
1
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
30483
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
72700
16
1
17
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
90296
0
1
1
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
47798
8
24
32
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
402692
0
0
0
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
360865
0
0
0
itsara_10_ASD_discovery_controls_2
Asthmatic children from parent-child trios. Diagnosis given by pediatric allergist at allergy referral clinic of Hospital Infantil de Mexico, Mexico City; genotyping performed at Univ. of Washington Dept. of Genome Sciences
386
Children with mild-to-moderate asthma
Range, 5-17 yrs.
351314
0
1
1
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
33367
1
0
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
128840
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)
23763
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.
38567
14
0
14
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
90296
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
gregory_09_ASD_discovery_cases
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
aCGH
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
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
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_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
itsara_10_ASD_discovery_controls_2
Hispanic/Mexican
Solid phase hybridization
Illumina HumanHap550 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
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
brandler_18_ASD_replication_cases-caseSSC08165
N/A
M
ASD
Case from SSC_phase2 cohort
53096410
53104126
7717
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_266337
N/A
F
Developmental delay/intellectual disability
56638859
56651955
13097
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20139_1274001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55760389
55798655
38267
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20153_1639001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55760389
55798655
38267
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5129_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55764458
55798655
34198
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5398_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55764458
55798655
34198
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5554_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55760389
55798655
38267
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case528-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
53713621
53737723
24103
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si293
10
M
Autism
ADOS score: 7. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 107; Non-verbal IQ, 134.
53105707
53508399
402693
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si295
19
F
Autism
ADOS score: NA. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 123; Verbal IQ, 140; Non-verbal IQ, 109.
53105707
53508399
402693
GRCh38
Deletion
No
gregory_09_ASD_discovery_cases-200300537
NA
ASD
NA
NA
53674220
54035085
360866
GRCh38
Deletion
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
55762477
55788532
26056
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
55808470
55828798
20329
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
55762477
55788532
26056
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5129_3
NA
F
ASD
NA
NA
55764458
55798655
34198
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1714A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU073006; NDAR ID NDAR_INVXL978NZ9)
55810925
55828976
18052
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case01HI2304A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0881301; NDAR ID NDAR_INVRE134JKL)
55810925
55828976
18052
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3528A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1197301; NDAR ID NDAR_INVYX107TLU)
56446624
56626533
179910
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3629A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1368302; NDAR ID NDAR_INVFL897HKN)
55810925
55846842
35918
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3983A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1019302; NDAR ID NDAR_INVBD378BUJ)
55810925
55828976
18052
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3997A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1439303; NDAR ID NDAR_INVJL075AWY)
55810925
55849773
38849
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4105A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1559303; NDAR ID NDAR_INVKK674DU9)
53454654
53467171
12518
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4242A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1470302; NDAR ID NDAR_INVTT848DRC)
55810925
55828976
18052
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case64378L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
54038882
54062644
23763
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-016a3
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
55798655
55829137
30483
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11071.p1
13.9
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
54378967
54385389
6423
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11099.p1
11.4
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
55115133
55119349
4217
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
54378967
54385389
6423
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11223.p1
12.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
54378967
54385389
6423
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
54378967
54385389
6423
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11857.p1
6.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 101; verbal IQ, 96
54066457
54073031
6575
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11860.p1
6
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
55833327
55842897
9571
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11995.p1
5.4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
55793775
55819147
25373
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
54378967
54385389
6423
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
54374776
54385389
10614
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
55641118
55645223
4106
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12409.p1
10.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
55725955
55798655
72701
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12465.p1
6.2
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
54374776
54385389
10614
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12674.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
55544544
55558249
13706
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
54378967
54385389
6423
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13045.p1
11.1
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
54717306
54720275
2970
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
55835816
55842897
7082
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case502
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
55861373
55951668
90296
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
engchuan_15_ASD_discovery_controls-control110036025021_
N/A
N/A
Control
No previous psychiatric history
53497403
53529332
31930
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB294002_1007853752
N/A
N/A
Control
No previous psychiatric history
55764458
55798655
34198
GRCh38
Homozygous deletion
No
engchuan_15_ASD_discovery_controls-controlB774671_0067942570
N/A
N/A
Control
No previous psychiatric history
55764458
55798655
34198
GRCh38
Homozygous deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900107_900107
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900124_900124
N/A
N/A
Control
No previous psychiatric history
55798655
55830540
31886
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900173_900173
N/A
N/A
Control
No previous psychiatric history
55798655
55830540
31886
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900184_900184
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900222_900222
N/A
N/A
Control
No previous psychiatric history
55798655
55833327
34673
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900258_900258
N/A
N/A
Control
No previous psychiatric history
55793775
55833327
39553
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900265_900265
N/A
N/A
Control
No previous psychiatric history
55793775
55827882
34108
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900269_900269
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900324_900324
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900350_900350
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
N/A
N/A
Control
No previous psychiatric history
55760694
55798655
37962
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900461_900461
N/A
N/A
Control
No previous psychiatric history
55793775
55835409
41635
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900824_900824
N/A
N/A
Control
No previous psychiatric history
55793775
55833327
39553
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900837_900837
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900860_900860
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900867_900867
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900887_900887
N/A
N/A
Control
No previous psychiatric history
55793775
55833327
39553
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900900_900900
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900902_900902
N/A
N/A
Control
No previous psychiatric history
55793775
55833826
40052
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900953_900953
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900988_900988
N/A
N/A
Control
No previous psychiatric history
55793775
55833327
39553
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902450_902450
N/A
N/A
Control
No previous psychiatric history
55760694
55808492
47799
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902492_902492
N/A
N/A
Control
No previous psychiatric history
55760694
55808492
47799
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
N/A
N/A
Control
No previous psychiatric history
55760694
55798655
37962
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902536_902536
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902549_902549
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902831_902831
N/A
N/A
Control
No previous psychiatric history
55793775
55830540
36766
GRCh38
Duplication
No
itsara_10_ASD_discovery_controls_2-10653
NA
NA
Asthma
NA
NA
55409075
55760389
351315
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_controls-control_split140
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
56369165
56402531
33367
Unknown
Deletion
No
poultney_13_ASD_discovery_controls-control04C37831A
N/A
F
Control
NIMH Control (NIMH ID 92135)
55700137
55828976
128840
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
54378967
54385389
6423
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11339.s1
11.2
M
Control (matched sibling)
NA
NA
55771267
55809834
38568
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11425.s1
5.5
F
Control (matched sibling)
NA
NA
55781103
55798655
17553
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11532.s1
13.5
F
Control (matched sibling)
NA
NA
54374776
54385389
10614
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11572.s1
14.3
F
Control (matched sibling)
NA
NA
54378967
54385389
6423
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
55833327
55842897
9571
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11894.s1
4.2
M
Control (matched sibling)
NA
NA
55839497
55842834
3338
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12180.s1
21.4
F
Control (matched sibling)
NA
NA
54378967
54385389
6423
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12463.s1
12.3
F
Control (matched sibling)
NA
NA
54066457
54073031
6575
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12532.s1
9
F
Control (matched sibling)
NA
NA
54374776
54385389
10614
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
54066457
54073031
6575
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
54378967
54385389
6423
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13051.s1
9.4
F
Control (matched sibling)
NA
NA
54373892
54385389
11498
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
54373892
54385389
11498
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseSSC08165
No validation step reported
Maternal
CHD9
digregorio_17_DD/ID_discovery_cases-DECIPHER_266337
Maternal
MT1DP,MT1CP,MT1B,MT1A
engchuan_15_ASD_discovery_cases-case20139_1274001
Unknown
CES1P1
engchuan_15_ASD_discovery_cases-case20153_1639001
Unknown
CES1P1
engchuan_15_ASD_discovery_cases-case5129_3
Unknown
CES1P1
engchuan_15_ASD_discovery_cases-case5398_3
Unknown
CES1P1
engchuan_15_ASD_discovery_cases-case5554_3
Unknown
CES1P1
gazzellone_14_ASD_discovery_cases-case528-3
Unknown
Unknown
Unknown
FTO
girirajan_11_ASD_discovery_cases-Si293
Unknown
Simplex
RNA5SP427,RNU6-1153P,AKTIP,CHD9,RBL2
girirajan_11_ASD_discovery_cases-Si295
Unknown
Simplex
RNA5SP427,RNU6-1153P,AKTIP,CHD9,RBL2
gregory_09_ASD_discovery_cases-200300537
aCGH dye swap
Unknown
NA
NA
RPGRIP1L,FTO
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
CES1P1
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
CES1
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
CES1P1
pinto_10_ASD_discovery_cases-case5129_3
Agilent1M
De novo
NA
NA
CES1P1
poultney_13_ASD_discovery_cases-case00HI1714A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CES1
poultney_13_ASD_discovery_cases-case01HI2304A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CES1
poultney_13_ASD_discovery_cases-case04HI3528A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MT4,MT2A,MT1L,MT1E,NUDT21,OGFOD1,MT3,BBS2
poultney_13_ASD_discovery_cases-case05HI3629A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CES1,CES5A
poultney_13_ASD_discovery_cases-case05HI3983A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CES1
poultney_13_ASD_discovery_cases-case05HI3997A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CES1,CES5A
poultney_13_ASD_discovery_cases-case05HI4105A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RBL2
poultney_13_ASD_discovery_cases-case05HI4242A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CES1
prasad_12_ASD_discovery_cases-case64378L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-016a3
qPCR
Paternal
Unknown
Unknown
CES1
sanders_11_ASD_discovery_cases-11071.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11099.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11223.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11532.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11857.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FTO
sanders_11_ASD_discovery_cases-11860.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CES1
sanders_11_ASD_discovery_cases-11995.p1
Unknown
Simplex (trio)
NA
CES1P1,CES1
sanders_11_ASD_discovery_cases-12208.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12257.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12279.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12409.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CES1P2,CES1P1
sanders_11_ASD_discovery_cases-12465.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12674.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LPCAT2
sanders_11_ASD_discovery_cases-12805.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13045.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13183.p1
Unknown
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case502
Unknown
Unknown
Unknown
CES5A
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036025021_
Unknown
AKTIP
engchuan_15_ASD_discovery_controls-controlB294002_1007853752
Unknown
CES1P1
engchuan_15_ASD_discovery_controls-controlB774671_0067942570
Unknown
CES1P1
engchuan_15_ASD_discovery_controls-controlHABC_900107_900107
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900124_900124
Unknown
CES1
engchuan_15_ASD_discovery_controls-controlHABC_900173_900173
Unknown
CES1
engchuan_15_ASD_discovery_controls-controlHABC_900184_900184
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900222_900222
Unknown
CES1
engchuan_15_ASD_discovery_controls-controlHABC_900258_900258
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900265_900265
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900269_900269
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900324_900324
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900350_900350
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
Unknown
CES1P1
engchuan_15_ASD_discovery_controls-controlHABC_900461_900461
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900824_900824
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900837_900837
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900860_900860
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900867_900867
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900887_900887
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900900_900900
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900902_900902
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900953_900953
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_900988_900988
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_902450_902450
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_902492_902492
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
Unknown
CES1P1
engchuan_15_ASD_discovery_controls-controlHABC_902536_902536
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_902549_902549
Unknown
CES1P1,CES1
engchuan_15_ASD_discovery_controls-controlHABC_902831_902831
Unknown
CES1P1,CES1
itsara_10_ASD_discovery_controls_2-10653
aCGH (custom NimbleGen 12 X 135)
De novo
CAPNS2,CES1P2,MMP2,MMP2-AS1,SLC6A2,LPCAT2
kanduri_15_ASD_discovery_controls-control_split140
Unknown
AMFR,GNAO1
poultney_13_ASD_discovery_controls-control04C37831A
Unknown
CES1P2,CES1P1,CES1,SLC6A2
sanders_11_ASD_discovery_controls-11220.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11339.s1
Unknown
Simplex (quad)
NA
CES1P1,CES1
sanders_11_ASD_discovery_controls-11425.s1
Maternal
Simplex (quad)
NA
CES1P1
sanders_11_ASD_discovery_controls-11532.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11572.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11860.s1
Unknown
Simplex (quad)
NA
CES1
sanders_11_ASD_discovery_controls-11894.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12180.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12463.s1
Maternal
Simplex (quad)
NA
FTO
sanders_11_ASD_discovery_controls-12532.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12572.s1
Maternal
Simplex (quad)
NA
FTO
sanders_11_ASD_discovery_controls-12997.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13051.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13136.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available