11q13.2CNV Type: Deletion-Duplication
Largest CNV size: 441253 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
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
Global increases in both common and rare copy number load associated with autism.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
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
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
1704
1
0
1
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
8315
2
0
2
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
410607
1
5
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
362340
0
2
2
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
76189
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
107517
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
86387
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
428994
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
436654
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
151123
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
247000
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
352113
1
0
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
410608
0
3
3
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)
82806
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
128260
0
2
2
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
441253
7
4
11
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
14118
2
0
2
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
384669
0
1
1
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
41777
1
0
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
278042
1
10
11
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
107774
0
6
6
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
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
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
0
0
0
0
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)
128260
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.
263430
3
5
8
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
14118
0
0
0
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
0
0
0
0
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
41777
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
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_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
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
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Long-range PCR, qPCR
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
qPCR
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_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
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_discovery_cases-caseSSC03647
N/A
M
ASD
Case from SSC_phase1 cohort
68406660
68408364
1705
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case3-0702-000
N/A
M
ASD
Case from MSSNG cohort
66244401
66252715
8315
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC05931
N/A
M
ASD
Case from SSC_phase2 cohort
66244401
66252715
8315
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14313_4300
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67717559
67989879
272321
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20162_1653001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67758808
67985501
226694
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2299_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67579272
67697159
117888
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5007_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68563686
68683779
120094
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5376_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67579272
67989879
410608
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5515_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67596726
67840398
243673
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1414302
Autism
67109265
67471604
362340
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1414303
Autism
67103863
67430258
326396
Unknown
Duplication
No
girirajan_13b_ASD_discovery_cases-20008109910
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
69234684
69310873
76190
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000870
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
67590733
67698250
107518
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1834
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
67501626
67588012
86387
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case12275.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
67604014
68033012
428999
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12275.p1
NA
M
ASD
NA
NA
67596499
68033156
436658
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0305-003
NA
M
ASD
NA
NA
68529733
68680856
151124
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam813Proband813-3
N/A
M
ASD
Additional clinical profile info N/A
ID
67734155
67981346
247192
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case38
N/A
N/A
Non-NDD
Disease cohort: blindness. Description: EYS deletion
68185780
68537892
352113
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5007_3
NA
M
Autism
Anxiety, language delay, no epilepsy, no dysmorphic features
Below average IQ
68563686
68683779
120094
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5376_3
NA
M
ASD
NA
NA
67579272
67989879
410608
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5515_3
NA
M
ASD
NA
NA
67596726
67840398
243673
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case05HI4468A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1414305; NDAR ID NDAR_INVWU030LWL)
67584132
67666937
82806
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case104085S
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
67101648
67229907
128260
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47607
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
68087729
68205591
117863
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11146.p1
10.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
67734155
67992895
258741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11321.p1
17.7
M
Autism
NA
Full-scale IQ, 12; non-verbal IQ, 17; verbal IQ, 7
68431540
68439819
8280
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
69599509
69615426
15918
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11542.p1
12.5
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
67734155
67947557
213403
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
67711837
67906211
194375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11557.p1
4.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
67744882
67947557
202676
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
68431540
68438705
7166
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
69142111
69146862
4752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12275.p1
4.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
67592793
68034050
441258
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12534.p1
7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
67734155
67985501
251347
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
69599215
69616648
17434
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case2-1075-003
N/A
M
ASD
N/A
N/A
68962076
68976193
14118
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case4-0023-003
N/A
F
ASD
Family history: affected monozygotic twin sibling (also female)
N/A
68962076
68969593
7518
GRCh38
Deletion
Yes
woodbury-smith_14_ASD_discovery_cases-case4
N/A
M
ASD
Family history: CNV found in 1 additional ASD case, 1 case with broad autism phenotype (BAP), and 2 non-ASD cases (bipolar disorder and recurrent depressive disorder); CNV also found in one unaffected family member; grandfather with broad autism phenotype, suspected Asperger syndrome
67579816
67964485
384670
GRCh38
Duplication
Yes
yin_16_ASD_discovery_cases-case411
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
67151146
67192922
41777
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-control110036017663_
N/A
N/A
Control
No previous psychiatric history
67734155
67832077
97923
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB122678_1007872285
N/A
N/A
Control
No previous psychiatric history
67734155
67820541
86387
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
N/A
N/A
Control
No previous psychiatric history
67758808
67906211
147404
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB655824_1007872623
N/A
N/A
Control
No previous psychiatric history
67711837
67989879
278043
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB855930_1007853688
N/A
N/A
Control
No previous psychiatric history
67734155
67820541
86387
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB910960_1007873735
N/A
N/A
Control
No previous psychiatric history
68903951
68939583
35633
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB934337_1007873579
N/A
N/A
Control
No previous psychiatric history
68903244
68939583
36340
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
N/A
N/A
Control
No previous psychiatric history
67758808
67964485
205678
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900515_900515
N/A
N/A
Control
No previous psychiatric history
67717559
67989879
272321
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900837_900837
N/A
N/A
Control
No previous psychiatric history
67735744
67820541
84798
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902636_902636
N/A
N/A
Control
No previous psychiatric history
67714968
67981346
266379
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11210113056
N/A
N/A
Control
Ethnicity: Caucasian
N/A
68406250
68460727
54478
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-11806105859
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
68406250
68460727
54478
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-16503100409
N/A
N/A
Control
Ethnicity: Hispanic
N/A
69093203
69200978
107776
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-17203100441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
69449104
69499517
50414
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-34306106585
N/A
N/A
Control
Ethnicity: Caucasian
N/A
68406686
68460727
54042
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-60505104592
N/A
N/A
Control
Ethnicity: Hispanic
N/A
68402189
68460380
58192
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11352.s1
7.5
F
Control (matched sibling)
NA
NA
67734155
67846996
112842
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
67734155
67997585
263431
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11615.s1
10.7
F
Control (matched sibling)
NA
NA
67735744
67964485
228742
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12032.s1
7.2
F
Control (matched sibling)
NA
NA
68038096
68050858
12763
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
68804309
68818518
14210
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12301.s1
16.8
F
Control (matched sibling)
NA
NA
67734155
67820541
86387
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
67786210
67794245
8036
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
69599215
69616648
17434
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC03647
PCR or SNP data validation
Maternal
LRP5
brandler_18_ASD_replication_cases-case3-0702-000
No validation step reported
Maternal
PACS1
brandler_18_ASD_replication_cases-caseSSC05931
No validation step reported
Maternal
PACS1
engchuan_15_ASD_discovery_cases-case14313_4300
Unknown
OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_cases-case20162_1653001
Unknown
ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_cases-case2299_1
Unknown
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,GSTP1,ACY3,ALDH3B2,TBX10
engchuan_15_ASD_discovery_cases-case5007_3
Unknown
PPP6R3
engchuan_15_ASD_discovery_cases-case5376_3
Unknown
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,GSTP1,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
engchuan_15_ASD_discovery_cases-case5515_3
Unknown
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
gai_11_ASD_discovery_cases-AU1414302
Inherited
GSTP1, NDUFV1, NUDT8, TBX10, ACY3, ALDH3B2, LOC645332
gai_11_ASD_discovery_cases-AU1414303
Inherited
GSTP1, NDUFV1, NUDT8, TBX10, ACY3, ALDH3B2, LOC645332
girirajan_13b_ASD_discovery_cases-20008109910
Unknown
Unknown
Unknown
IFITM9P,MYEOV
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000870
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,ACY3,ALDH3B2,TBX10
kanduri_15_ASD_discovery_cases-case1834
De novo
Unknown
Unknown
FAM86C2P (non-coding RNA, exonic)
krumm_15_ASD_discovery_cases-case12275.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,NDUFS8,MIR7113,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,UNC93B1,TBX10,OR7E11P,ALDH3B1
levy_11_ASD_discovery_cases-12275.p1
Paternal
Simplex
Segregated
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,NDUFS8,MIR7113,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,UNC93B1,TBX10,OR7E11P,ALDH3B1
marshall_08_ASD_discovery_cases-MM0305-003
qPCR, qmPCR
Unknown
NA
NA
PPP6R3
nava_13_ASD_discovery_cases-Fam813Proband813-3
Paternal
Simplex
Unknown
ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
pfundt_16_nonNDD_discovery_cases-case38
Array SNP (Affymetrix CytoScan HD)
C11orf24,NDUFA3P2,LRP5,PPP6R3,KMT5B
pinto_10_ASD_discovery_cases-case5007_3
Agilent1M
maternal
Multiplex
NA
PPP6R3
pinto_10_ASD_discovery_cases-case5376_3
Agilent1M
maternal
NA
NA
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,GSTP1,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
pinto_10_ASD_discovery_cases-case5515_3
Agilent1M
maternal
NA
NA
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
poultney_13_ASD_discovery_cases-case05HI4468A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
C11orf72,NDUFV1,DOC2GP,NUDT8,GSTP1,ACY3,ALDH3B2,TBX10
prasad_12_ASD_discovery_cases-case104085S
Unknown
Unknown
Unknown
NUDT8,ALDH3B2,NDUFV1,TBX10,GSTP1,ACY3,DOC2GP
prasad_12_ASD_discovery_cases-case47607
Unknown
Unknown
Unknown
PPP6R3
sanders_11_ASD_discovery_cases-11146.p1
Unknown
Simplex (quad-proband matched)
Segregated
ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,UNC93B1,OR7E11P
sanders_11_ASD_discovery_cases-11321.p1
Unknown
Simplex (quad-proband matched)
Segregated
LRP5
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11542.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ALG1L8P,RNU6-46P,RPS3AP40,FAM86C2P,ENPP7P7,OR7E11P
sanders_11_ASD_discovery_cases-11554.p1
Unknown
Simplex (quad-proband matched)
Not segregated
OR7E145P,ALG1L8P,RNU6-46P,UNC93B5,FAM86C2P,ENPP7P7,OR7E11P
sanders_11_ASD_discovery_cases-11557.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ALG1L8P,RNU6-46P,RPS3AP40,FAM86C2P,ENPP7P7,OR7E11P
sanders_11_ASD_discovery_cases-12083.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LRP5
sanders_11_ASD_discovery_cases-12144.p1
Maternal
Simplex (trio)
NA
TPCN2
sanders_11_ASD_discovery_cases-12275.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,NDUFS8,MIR7113,MIR4691,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,UNC93B1,TBX10,OR7E11P,ALDH3B1
sanders_11_ASD_discovery_cases-12534.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
sanders_11_ASD_discovery_cases-13226.p1
Paternal
Simplex (quad-proband matched)
Segregated
walker_13_ASD_discovery_cases-case2-1075-003
Long-range PCR or qPCR
Maternal
Simplex
Not segregated (deletion present in unaffected sibling)
walker_13_ASD_discovery_cases-case4-0023-003
Long-range PCR or qPCR
Maternal
Multiplex
Segregated
woodbury-smith_14_ASD_discovery_cases-case4
qPCR
Maternal
Possible multi-generational (grandfather with broad autism phenotype, suspected Asperger syndrome)
Incomplete segregation
C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,GSTP1,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
yin_16_ASD_discovery_cases-case411
Unknown
Unknown
Unknown
KDM2A
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017663_
Unknown
ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_controls-controlB122678_1007872285
Unknown
ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
Unknown
ALG1L8P,RNU6-46P,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_controls-controlB655824_1007872623
Unknown
OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,UNC93B5,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_controls-controlB855930_1007853688
Unknown
ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_controls-controlB910960_1007873735
Unknown
IGHMBP2
engchuan_15_ASD_discovery_controls-controlB934337_1007873579
Unknown
MRPL21,IGHMBP2
engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
Unknown
ALG1L8P,RNU6-46P,RPS3AP40,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_controls-controlHABC_900515_900515
Unknown
OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_controls-controlHABC_900837_900837
Unknown
ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
engchuan_15_ASD_discovery_controls-controlHABC_902636_902636
Unknown
OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,UNC93B5,FAM86C2P,ENPP7P7,OR7E11P
girirajan_13b_ASD_discovery_controls-11210113056
Unknown
LRP5
girirajan_13b_ASD_discovery_controls-11806105859
Unknown
LRP5
girirajan_13b_ASD_discovery_controls-16503100409
Unknown
TPCN2
girirajan_13b_ASD_discovery_controls-17203100441
Unknown
LINC01488
girirajan_13b_ASD_discovery_controls-34306106585
Unknown
LRP5
girirajan_13b_ASD_discovery_controls-60505104592
Unknown
LRP5
sanders_11_ASD_discovery_controls-11352.s1
Maternal
Simplex (quad)
NA
ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
sanders_11_ASD_discovery_controls-11436.s1
Paternal
Simplex (quad)
NA
ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,UNC93B1,OR7E11P
sanders_11_ASD_discovery_controls-11615.s1
Unknown
Simplex (quad)
NA
ALG1L8P,RNU6-46P,RPS3AP40,FAM86C2P,ENPP7P7,OR7E11P
sanders_11_ASD_discovery_controls-12032.s1
Both parents
Simplex (quad)
NA
MIR6753,TCIRG1
sanders_11_ASD_discovery_controls-12184.s1
Unknown
Simplex (quad)
NA
CPT1A
sanders_11_ASD_discovery_controls-12301.s1
Paternal
Simplex (quad)
NA
ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
sanders_11_ASD_discovery_controls-12701.s1
Unknown
Simplex (quad)
NA
ALG1L8P,FAM86C2P
sanders_11_ASD_discovery_controls-12722.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available