4p13CNV Type: Deletion-Duplication
Largest CNV size: 117267 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
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...
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
578000
0
1
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
32604
0
1
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
63886
0
1
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
901357
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
150
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
95508
0
3
3
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
73000
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
63887
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
71285
1
1
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
117267
33
13
46
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
11869
1
0
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
577516
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
285
1
0
1
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
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
96753
1
1
2
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
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
428990
1
0
1
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
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)
71285
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.
64598
30
10
40
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
577516
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
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
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
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
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
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
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
chen_17_ASD_discovery_cases-caseU-480
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 25 (past score 26); Qualitative abnormalities in verbal and nonverbal communication, current score 14 (past score 14); Qualitative abnormalities in nonverbal communication, current score 6 (past score 6); Restricted, repetitive, and stereotyped patterns of behaviour, current score 3 (past score 8); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 79; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score n/a. Epilepsy: no history of epilepsy.
Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
44007184
44584699
577516
GRCh38
Duplication
Yes
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
44964987
44997590
32604
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5223_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45585282
45649168
63887
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004790
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
44297326
45198683
901358
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11066.p1
N/A
M
ASD
ASD proband from SSC quad family 11066. SRS score of 82.
Full-scale IQ (FSIQ) score of 88.
41256976
41257126
151
GRCh38
Duplication
No (not tested)
marshall_08_ASD_discovery_cases-MM0010-005
NA
M
ASD
NA
NA
44930422
45003855
73434
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-NA0093-000
NA
M
ASD
NA
NA
44930422
45003855
73434
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0283-003
NA
F
ASD
NA
NA
44920051
45015559
95509
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case5701
NA
ASD
NA
NA
44765000
44839000
73000
Unknown
Duplication
No
pinto_10_ASD_discovery_cases-case5223_3
NA
F
ASD
NA
NA
45585282
45649168
63887
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case110408
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
42702087
42714693
12607
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case138952L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
45277148
45348432
71285
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
44973521
45000970
27450
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11029.p1
9.3
F
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
44463853
44551852
88000
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11093.p1
8.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
44966586
45000970
34385
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11135.p1
6.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
44959516
45000970
41455
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
44966586
45000970
34385
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11148.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
42289942
42312700
22759
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
44959516
45000970
41455
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11270.p1
6
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11300.p1
10.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11421.p1
7.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
42695536
42710097
14562
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11424.p1
6.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 97; verbal IQ, 90
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11536.p1
5.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11543.p1
16.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11565.p1
10.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
44966586
45000970
34385
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11720.p1
8
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11773.p1
13.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
43535583
43652850
117268
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11928.p1
12.6
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
41460395
41463678
3284
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12114.p1
16.7
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
44973521
45005191
31671
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
44932824
44939275
6452
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12206.p1
17.1
M
Aspergers
NA
Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
41404113
41405651
1539
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12225.p1
15.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
41831470
41847989
16520
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12361.p1
4.8
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12438.p1
4.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12518.p1
5.8
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12623.p1
6.7
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95
42695536
42710097
14562
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12628.p1
11.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12790.p1
7.9
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
42695536
42710097
14562
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12821.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 86
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
42695536
42707404
11869
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
42695536
42707404
11869
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case192
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
44007184
44584699
577516
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
brandler_18_ASD_discovery_controls-controlSSC00082
N/A
F
Control
Control from SSC cohort
44116652
44116937
286
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
N/A
N/A
Control
No previous psychiatric history
45250189
45346942
96754
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902557_902557
N/A
N/A
Control
No previous psychiatric history
45657848
45723507
65660
GRCh38
Deletion
No
leblond_19_ASD_discovery_controls-controlPN400464
N/A
F
Control
Non-autism control
41256895
41685885
428991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
44478766
44543364
64599
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11093.s1
9.8
M
Control (matched sibling)
NA
NA
44966586
45000970
34385
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
44966586
45000970
34385
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
44966586
45000970
34385
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11148.s1
12.2
F
Control (matched sibling)
NA
NA
42289942
42312700
22759
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11270.s1
4.2
M
Control (matched sibling)
NA
NA
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11372.s1
4
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11390.s1
6.8
F
Control (matched sibling)
NA
NA
44966586
45000970
34385
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11424.s1
6.8
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11459.s1
14.3
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11526.s1
7.9
F
Control (matched sibling)
NA
NA
44472083
44534337
62255
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11720.s1
11.6
F
Control (matched sibling)
NA
NA
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11724.s1
14.5
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11773.s1
14.3
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
42704111
42707404
3294
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
42695536
42710097
14562
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12007.s1
10.9
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
44932824
44939275
6452
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12206.s1
13.1
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
41460395
41476127
15733
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12561.s1
7.8
F
Control (matched sibling)
NA
NA
41839317
41847989
8673
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12605.s1
13.3
M
Control (matched sibling)
NA
NA
43430905
43443164
12260
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12623.s1
8.8
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12735.s1
9.1
M
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
44966586
45002970
36385
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12790.s1
8.9
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12821.s1
9
F
Control (matched sibling)
NA
NA
42695536
42707404
11869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
44966586
45002970
36385
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_cases-caseU-480
RT-qPCR
Paternal
LINC02475,KCTD8
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
engchuan_15_ASD_discovery_cases-case5223_3
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004790
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRDX4P1,YIPF7,KCTD8,GUF1,GNPDA2
krumm_13_ASD_discovery_cases-case11066.p1
Paternal
Simplex
Segregated
UCHL1
marshall_08_ASD_discovery_cases-MM0010-005
qPCR, qmPCR
Unknown
NA
NA
PRDX4P1
marshall_08_ASD_discovery_cases-NA0093-000
qPCR, qmPCR
Unknown
NA
NA
PRDX4P1
marshall_08_ASD_discovery_cases-SK0283-003
qPCR, qmPCR
Unknown
NA
NA
PRDX4P1
morrow_08_ASD_discovery_cases-case5701
Paternal
NA
NA
3' end of GABRG1
pinto_10_ASD_discovery_cases-case5223_3
Agilent1M
maternal
NA
NA
prasad_12_ASD_discovery_cases-case110408
Unknown
Multiplex
Unknown
GRXCR1
prasad_12_ASD_discovery_cases-case138952L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11004.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11029.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11080.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11093.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11124.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11135.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11141.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11148.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11200.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11200.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11270.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11300.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11421.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11424.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11440.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11506.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11536.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11543.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11565.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11720.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11773.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11897.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SL691P
sanders_11_ASD_discovery_cases-11928.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LIMCH1
sanders_11_ASD_discovery_cases-11964.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12007.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12010.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12114.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12121.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12175.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12175.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12206.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12221.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
LIMCH1
sanders_11_ASD_discovery_cases-12225.p1
Unknown
Simplex (quad-proband matched)
Segregated
HMGB1P28
sanders_11_ASD_discovery_cases-12361.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12363.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12435.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12438.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12518.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12623.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12628.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12790.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12821.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12948.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12957.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12975.p1
Paternal
Simplex (quad-proband matched)
Not segregated
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
yin_16_ASD_discovery_cases-case192
Unknown
Unknown
Unknown
LINC02475,KCTD8
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC00082
Not available
Unknown
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
Unknown
THAP12P9
engchuan_15_ASD_discovery_controls-controlHABC_902557_902557
Unknown
leblond_19_ASD_discovery_controls-controlPN400464
Unknown
UCHL1,RPL12P20,LIMCH1
sanders_11_ASD_discovery_controls-11029.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11057.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11071.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11093.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11118.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11135.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11141.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11148.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11241.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11270.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11372.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11390.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11424.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11459.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11526.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11691.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11720.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11724.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11773.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11959.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11964.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11982.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12007.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12041.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12175.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12175.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12206.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12339.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12435.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12518.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12555.s1
Unknown
Simplex (quad)
NA
LIMCH1
sanders_11_ASD_discovery_controls-12561.s1
Unknown
Simplex (quad)
NA
HMGB1P28
sanders_11_ASD_discovery_controls-12605.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12623.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12735.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12780.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12790.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12821.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13036.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available