18p11.32CNV Type: Deletion-Duplication
Largest CNV size: 455523 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
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.
Deletion
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
1389
1
0
1
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
1697000
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
380696
9
4
13
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
394362
0
3
3
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.
369914
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
495000
0
2
2
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
960234
1
2
3
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
64689
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
233372
1
3
4
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
1533846
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
276581
0
2
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
72000
1
0
1
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)
49300
1
0
1
newbury_12_ASD/CAS_discovery_cases
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
1
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
14 yrs.
Male
61161
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
129266
3
0
3
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
26906
5
1
6
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
445449
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
455523
32
5
37
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
400040
1
2
3
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
1688533
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
1312210
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
1582400
21
11
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.
369914
0
0
0
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
108234
2
0
2
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
64689
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
329228
0
3
3
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
276581
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
26906
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.
455523
23
3
26
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
1312210
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
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_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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_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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11533
NA
M
ASD
NA
NA
264075
265464
1390
GRCh38
Deletion
No
chen_17_ASD_discovery_cases-caseU-1519
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 5 (past score 8); Qualitative abnormalities in verbal and nonverbal communication, current score 9 (past score 9); Qualitative abnormalities in nonverbal communication, current score 4 (past score 4); Restricted, repetitive, and stereotyped patterns of behaviour, current score 1 (past score 1); Abnormality of development evident at or before 36 months, past score 0. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 83; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 30. Epilepsy: no history of epilepsy.
Performance IQ 94, Verbal IQ 105, Full-scale IQ 100
543161
2240220
1697060
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case16074_1571042001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16089_1571115001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1720626
1839386
118761
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21055_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4149_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
844448
895554
51107
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4239_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
723778
1002611
278834
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4239_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1542522
1923218
380697
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4271_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
473288
619050
145763
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4302_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5106_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1720626
1849891
129266
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5264_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1718331
1839386
121056
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5350_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1718331
1839386
121056
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6370_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1720626
1839386
118761
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8152_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
369148
642678
273531
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU0827301
Autism
1410484
1804845
394362
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU0827302
Autism
755920
973188
217269
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU0827302
Autism
1371290
1741275
369986
Unknown
Duplication
No
girirajan_11_ASD_discovery_cases-Si199
9
M
Autism
ADOS score: 6. Vineland composite score: NA.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 101; Non-verbal IQ, 109.
1393677
1763591
369915
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11008.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
370000
660000
290001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13999.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
2280001
2770002
490002
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004030
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148763
293736
144974
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004252
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148763
1108996
960234
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005145
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
829995
1782083
952089
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11008.p1
N/A
M
ASD
ASD proband from SSC quad family 11008. SRS score of 65.
Full-scale IQ (FSIQ) score of 129.
580408
645097
64690
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case11252.p1
N/A
M
ASD
ASD proband from SSC quad family 11252. SRS score of 86.
Full-scale IQ (FSIQ) score of 78.
688573
697355
8783
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11008.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
580408
645097
64690
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11012.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
163307
321807
158501
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11252.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
688573
697355
8783
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13999.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
2538999
2772372
233374
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0053
21 yrs.
F
ASD, ADHD, ID
Behavioral/psychiatric evaluation: ADHD, sensory hypersensitivity, echolalia. Congenital and developmental phenotypes: cleft lip, congenital heart diseases. Family history: negative.
Moderate intellectual disability
10000
1543845
1533846
GRCh38
Deletion
N/A
levy_11_ASD_discovery_cases-11008.p1
NA
M
ASD
NA
NA
368068
644648
276581
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11012.p1
NA
M
ASD
NA
NA
131660
322229
190570
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown71
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
304153
376355
72203
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case11401
NA
ASD
NA
NA
1947000
1996000
49300
Unknown
Deletion
No
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
1919684
1980845
61162
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1206_5
NA
M
ASD
NA
NA
1725757
1839386
113630
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5106_3
NA
M
ASD
Language delay, no epilepsy, no dysmorphic features, CT scan normal
Below average nonverbal IQ (<1%ile)
1720626
1849891
129266
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5264_4
NA
F
ASD
NA
NA
1718331
1839386
121056
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case125700
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
134339
144257
9919
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case139459L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
114820
134739
19920
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59640L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
121465
134739
13275
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60662-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
121465
134739
13275
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case62246-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
134339
145678
11340
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseMM0010-3
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
1041979
1068884
26906
Unknown
Duplication
No
rosenfeld_10_ASD_discovery_cases-case15240
NA
NA
ASD
NA
NA
1160513
1605962
445449
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11008.p1
15.3
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
370338
644734
274397
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11010.p1
4.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 68; verbal IQ, 60
1908847
1986226
77380
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11012.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
132301
322522
190222
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11028.p1
9
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
838215
852561
14347
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11071.p1
13.9
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
293519
303811
10293
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
691173
695030
3858
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11415.p1
11.6
M
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11484.p1
10.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104
1908847
1986226
77380
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11518.p1
11.2
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11519.p1
6.7
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 84; verbal IQ, 23
1908847
1986213
77367
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
1880288
2132163
251876
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11604.p1
17.2
F
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 23; verbal IQ 13
1725757
1839386
113630
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
1725757
1845636
119880
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11828.p1
5.5
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
293519
303811
10293
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12030.p1
6.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
1395598
1851121
455524
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12202.p1
11.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
2390803
2397986
7184
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12219.p1
7.2
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 136
1913315
1980667
67353
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
2390803
2396956
6154
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
293519
303811
10293
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12343.p1
6.2
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
1908847
1980667
71821
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
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12441.p1
13.7
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
139767
173965
34199
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12493.p1
15.3
F
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
813556
820381
6826
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12493.p1
15.3
F
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12523.p1
6.1
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
1725757
1845636
119880
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12598.p1
17.4
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
1557275
1736034
178760
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12645.p1
4.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 84; verbal IQ, 94
843970
900331
56362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12664.p1
11.4
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12671.p1
12.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
1913315
1980667
67353
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12741.p1
7.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 87; verbal IQ, 60
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
293519
303811
10293
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
293519
303811
10293
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
293519
303811
10293
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR067-D10-HI2765
NA
ASD
NA
NA
1574269
1817189
242921
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR067-D12-HI2767
NA
ASD
NA
NA
1574269
1974309
400041
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR076-D4-04C36611
NA
ASD
NA
NA
1757999
1817189
59191
GRCh38
Deletion
Yes
wenger_16_ASD_discovery_cases-case25
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
551688
2240220
1688533
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case527
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
543161
1855369
1312209
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-control110036014728_
N/A
N/A
Control
No previous psychiatric history
563815
632651
68837
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036017192_
N/A
N/A
Control
No previous psychiatric history
387120
732476
345357
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036018687_
N/A
N/A
Control
No previous psychiatric history
1720626
1839386
118761
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB246144_1007852649
N/A
N/A
Control
No previous psychiatric history
928868
1654557
725690
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB313799_1007874681
N/A
N/A
Control
No previous psychiatric history
2268254
2566394
298141
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB412301_1007874436
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB435341_1007840517
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB581247_1007872544
N/A
N/A
Control
No previous psychiatric history
1974314
2021734
47421
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB600893_1007854068
N/A
N/A
Control
No previous psychiatric history
2184723
2235705
50983
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB757128_1007874832
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB820851_1007853923
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB849884_1007854315
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
N/A
N/A
Control
No previous psychiatric history
563815
677240
113426
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
N/A
N/A
Control
No previous psychiatric history
2467023
2586908
119886
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
N/A
N/A
Control
No previous psychiatric history
862168
2444570
1582403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB968534_1007842350
N/A
N/A
Control
No previous psychiatric history
1974314
2021734
47421
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900063_900063
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900229_900229
N/A
N/A
Control
No previous psychiatric history
1134694
1501665
366972
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900238_900238
N/A
N/A
Control
No previous psychiatric history
1720626
1839386
118761
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900249_900249
N/A
N/A
Control
No previous psychiatric history
319176
687270
368095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900299_900299
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900318_900318
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900388_900388
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900430_900430
N/A
N/A
Control
No previous psychiatric history
1974314
2021734
47421
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900481_900481
N/A
N/A
Control
No previous psychiatric history
369148
644734
275587
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900603_900603
N/A
N/A
Control
No previous psychiatric history
466283
683607
217325
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900989_900989
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902589_902589
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902608_902608
N/A
N/A
Control
No previous psychiatric history
1725757
1839386
113630
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1424
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
1913316
1970379
57064
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split480
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
1731154
1839387
108234
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11008.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11008. SRS score N/A.
580408
645097
64690
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11008.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
580408
645097
64690
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13918.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
580408
909635
329228
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14211.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
163307
204692
41386
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11008.s1
NA
M
Control
NA
NA
368068
644648
276581
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11008.s1
26.3
M
Control (matched sibling)
NA
NA
372837
644734
271898
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11011.s1
5.9
M
Control (matched sibling)
NA
NA
1908847
1986226
77380
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11094.s1
12.2
M
Control (matched sibling)
NA
NA
1725757
1845636
119880
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11158.s1
11.6
M
Control (matched sibling)
NA
NA
293519
303811
10293
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11357.s1
4.7
F
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11415.s1
13.6
M
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11518.s1
12.2
F
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11526.s1
7.9
F
Control (matched sibling)
NA
NA
1886711
2132163
245453
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11629.s1
11
F
Control (matched sibling)
NA
NA
1542522
1548714
6193
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11630.s1
8.3
M
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11828.s1
5.5
F
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12030.s1
8.2
F
Control (matched sibling)
NA
NA
1395598
1851121
455524
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12239.s1
7.4
M
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
1908847
1977720
68874
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12378.s1
4.4
M
Control (matched sibling)
NA
NA
1896279
1980667
84389
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12407.s1
4.8
F
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12598.s1
12
F
Control (matched sibling)
NA
NA
1557275
1734850
177576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
293519
306724
13206
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12671.s1
17.4
F
Control (matched sibling)
NA
NA
1913315
1980667
67353
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12741.s1
5.9
M
Control (matched sibling)
NA
NA
1908847
1980667
71821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
844448
847306
2859
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
293519
303811
10293
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
293519
303811
10293
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13303.s1
17.5
M
Control (matched sibling)
NA
NA
1718331
1864544
146214
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11533
Unknown
Simplex
NA
THOC1
chen_17_ASD_discovery_cases-caseU-1519
RT-qPCR
Maternal
CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,CLUL1,TYMS,ENOSF1,TYMSOS,YES1,LINC00470
engchuan_15_ASD_discovery_cases-case16074_1571042001
Unknown
engchuan_15_ASD_discovery_cases-case16089_1571115001
Unknown
engchuan_15_ASD_discovery_cases-case21055_1
Unknown
engchuan_15_ASD_discovery_cases-case4149_1
Unknown
engchuan_15_ASD_discovery_cases-case4239_1
Unknown
RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,YES1
engchuan_15_ASD_discovery_cases-case4239_1
Unknown
engchuan_15_ASD_discovery_cases-case4271_1
Unknown
LINC01925,CETN1,RN7SKP146,CLUL1,COLEC12
engchuan_15_ASD_discovery_cases-case4302_1
Unknown
engchuan_15_ASD_discovery_cases-case5106_3
Unknown
engchuan_15_ASD_discovery_cases-case5264_4
Unknown
engchuan_15_ASD_discovery_cases-case5350_3
Unknown
engchuan_15_ASD_discovery_cases-case6370_3
Unknown
engchuan_15_ASD_discovery_cases-case8152_201
Unknown
LINC01925,CETN1,RN7SKP146,CLUL1,COLEC12,TYMSOS
gai_11_ASD_discovery_cases-AU0827301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU0827302
Inherited
YES1, ADCYAP1
gai_11_ASD_discovery_cases-AU0827302
Inherited
0 genes
girirajan_11_ASD_discovery_cases-Si199
Unknown
Simplex
LINC00470
girirajan_13a_ASD_discovery_cases-11008.p1
Unknown
Simplex
Unknown
LINC01925,CETN1,RN7SKP146,CLUL1,TYMS,COLEC12,TYMSOS
girirajan_13a_ASD_discovery_cases-13999.p1
Unknown
Simplex
Unknown
KATNBL1P3,RNU6-340P,METTL4,NDC80,CBX3P2,SMCHD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004030
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
USP14,THOC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004252
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,USP14,CLUL1,TYMS,ENOSF1,THOC1,COLEC12,TYMSOS,YES1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005145
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,LINC00470
krumm_13_ASD_discovery_cases-case11008.p1
Maternal
Simplex
Not segregated
CETN1,RN7SKP146,CLUL1,TYMSOS
krumm_13_ASD_discovery_cases-case11252.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
ENOSF1
krumm_15_ASD_discovery_cases-case11008.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CETN1,RN7SKP146,CLUL1,TYMSOS
krumm_15_ASD_discovery_cases-case11012.p1
Illumina 1M
Maternal
Simplex
Segregated
USP14,THOC1,COLEC12
krumm_15_ASD_discovery_cases-case11252.p1
Illumina 1M
Maternal
Simplex
Segregated
ENOSF1
krumm_15_ASD_discovery_cases-case13999.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
KATNBL1P3,RNU6-340P,METTL4,NDC80,CBX3P2,SMCHD1
kushima_18_ASD_discovery_cases-caseASD0053
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
De novo
Simplex
Segregated
LINC02564,MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,TUBB8P12,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,THOC1,COLEC12,TYMSOS,YES1,LINC00470
levy_11_ASD_discovery_cases-11008.p1
Maternal
Simplex
Not segregated
LINC01925,CETN1,RN7SKP146,CLUL1,COLEC12,TYMSOS
levy_11_ASD_discovery_cases-11012.p1
Maternal
Simplex
Segregated
USP14,THOC1,COLEC12
maini_18_ASD/DD/ID_discovery_cases-case_unknown71
Paternal
Unknown
Unknown
COLEC12
morrow_08_ASD_discovery_cases-case11401
Maternal
NA
NA
3' end of METTL4
newbury_12_ASD/CAS_discovery_cases-case1
Unknown
Simplex
Unknown (common in DGV)
pinto_10_ASD_discovery_cases-case1206_5
Affy5.0
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5106_3
Agilent1M
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5264_4
Agilent1M
paternal
NA
NA
prasad_12_ASD_discovery_cases-case125700
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case139459L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59640L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60662-L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case62246-L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-caseMM0010-3
Unknown
Unknown
Unknown
0 genes
rosenfeld_10_ASD_discovery_cases-case15240
FISH
Maternal
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11008.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01925,CETN1,RN7SKP146,CLUL1,COLEC12,TYMSOS
sanders_11_ASD_discovery_cases-11010.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11012.p1
Maternal
Simplex (quad-proband matched)
Not segregated
USP14,THOC1,COLEC12
sanders_11_ASD_discovery_cases-11028.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11071.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11158.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11252.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ENOSF1
sanders_11_ASD_discovery_cases-11415.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11484.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11518.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11519.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11604.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11630.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11665.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11828.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12009.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12030.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00470
sanders_11_ASD_discovery_cases-12202.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12219.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12250.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12287.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12343.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12361.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12441.p1
Maternal
Simplex (quad-proband matched)
Not segregated
USP14
sanders_11_ASD_discovery_cases-12493.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12493.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12523.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12598.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12645.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12664.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12671.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12741.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12964.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13013.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13136.p1
Maternal
Simplex (quad-proband matched)
Not segregated
szatmari_07_ASD_discovery_cases-NAAR067-D10-HI2765
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR067-D12-HI2767
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR076-D4-04C36611
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
wenger_16_ASD_discovery_cases-case25
Unknown
CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,CLUL1,TYMS,ENOSF1,TYMSOS,YES1,LINC00470
yin_16_ASD_discovery_cases-case527
Unknown
Unknown
Unknown
CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,CLUL1,TYMS,ENOSF1,TYMSOS,YES1,LINC00470
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036014728_
Unknown
CETN1,RN7SKP146,CLUL1
engchuan_15_ASD_discovery_controls-control110036017192_
Unknown
LINC01925,CETN1,RN7SKP146,CLUL1,TYMS,ENOSF1,COLEC12,TYMSOS,YES1
engchuan_15_ASD_discovery_controls-control110036018687_
Unknown
engchuan_15_ASD_discovery_controls-controlB246144_1007852649
Unknown
COX6CP3,RN7SKP72,LINC00470
engchuan_15_ASD_discovery_controls-controlB313799_1007874681
Unknown
METTL4
engchuan_15_ASD_discovery_controls-controlB412301_1007874436
Unknown
engchuan_15_ASD_discovery_controls-controlB435341_1007840517
Unknown
engchuan_15_ASD_discovery_controls-controlB581247_1007872544
Unknown
engchuan_15_ASD_discovery_controls-controlB600893_1007854068
Unknown
engchuan_15_ASD_discovery_controls-controlB757128_1007874832
Unknown
engchuan_15_ASD_discovery_controls-controlB820851_1007853923
Unknown
engchuan_15_ASD_discovery_controls-controlB849884_1007854315
Unknown
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
Unknown
CETN1,RN7SKP146,CLUL1,TYMS,ENOSF1,TYMSOS
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
Unknown
METTL4,NDC80
engchuan_15_ASD_discovery_controls-controlB937063_1007875107
Unknown
ADCYAP1,LINC01904,COX6CP3,RN7SKP72,LINC00470
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
Unknown
engchuan_15_ASD_discovery_controls-controlB968534_1007842350
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900063_900063
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900229_900229
Unknown
COX6CP3,RN7SKP72,LINC00470
engchuan_15_ASD_discovery_controls-controlHABC_900238_900238
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900249_900249
Unknown
LINC01925,CETN1,RN7SKP146,CLUL1,TYMS,ENOSF1,COLEC12,TYMSOS
engchuan_15_ASD_discovery_controls-controlHABC_900299_900299
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900318_900318
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900388_900388
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900430_900430
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900481_900481
Unknown
LINC01925,CETN1,RN7SKP146,CLUL1,COLEC12,TYMSOS
engchuan_15_ASD_discovery_controls-controlHABC_900603_900603
Unknown
LINC01925,CETN1,RN7SKP146,CLUL1,TYMS,ENOSF1,COLEC12,TYMSOS
engchuan_15_ASD_discovery_controls-controlHABC_900989_900989
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902589_902589
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902608_902608
Unknown
kanduri_15_ASD_discovery_controls-control_split1424
Unknown
Intergenic CNV: nearest genes, LINC00470(dist=553686),METTL4(dist=567145)
kanduri_15_ASD_discovery_controls-control_split480
Unknown
Intergenic CNV: nearest genes, LINC00470(dist=371524),METTL4(dist=698137)
krumm_13_ASD_discovery_controls-control11008.s1
Maternal
Simplex
CETN1,RN7SKP146,CLUL1,TYMSOS
krumm_15_ASD_discovery_controls-control11008.s1
Illumina 1M
Maternal
CETN1,RN7SKP146,CLUL1,TYMSOS
krumm_15_ASD_discovery_controls-control13918.s1
Omni2.5-4v1
Paternal
CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,CLUL1,TYMS,ENOSF1,TYMSOS,YES1
krumm_15_ASD_discovery_controls-control14211.s1
Omni2.5-4v1
Paternal
USP14
levy_11_ASD_discovery_controls-11008.s1
Maternal
Simplex
NA
LINC01925,CETN1,RN7SKP146,CLUL1,COLEC12,TYMSOS
sanders_11_ASD_discovery_controls-11008.s1
Maternal
Simplex (quad)
NA
LINC01925,CETN1,RN7SKP146,CLUL1,COLEC12,TYMSOS
sanders_11_ASD_discovery_controls-11011.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11094.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11158.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11357.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11415.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11518.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11526.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11629.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11630.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11828.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11979.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12030.s1
Paternal
Simplex (quad)
NA
LINC00470
sanders_11_ASD_discovery_controls-12239.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12361.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12363.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12378.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12407.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12598.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12671.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12741.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12832.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12964.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13136.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13303.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available