3p14.2CNV Type: Deletion-Duplication
Largest CNV size: 505806 bp
Statistics Box:
Number of Reports: 29
Number of Reports: 29
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Strong association of de novo copy number mutations with autism.
Deletion-Duplication
Structural variation of chromosomes in autism spectrum disorder.
Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-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.
Deletion-Duplication
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
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.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
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.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
96294
2
0
2
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
75972
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
1700
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
331137
12
2
14
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
1287000
0
1
1
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
103386
3
0
3
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
21970
1
0
1
garber_24_ASD/ADHD/DD/ID_discovery_cases
An 11-year-old female of Spanish ancestry presenting with a de novo 3p14.2 microdeletion resulting in complete deletion of the FEZF2 gene (from an initial cohort of seven individuals with heterozygous FEZF2 variants).
1
Case presented with autism spectrum disorder (ASD), ADHD, developmental delay, and intellectual disability.
11 yrs.
Female
2608065
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
335634
1
0
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
323000
3
1
4
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
1240602
3
1
4
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
1078518
1
0
1
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
191300
1
0
1
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
90519
1
0
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
378450
3
0
3
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
90520
1
0
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
378451
4
0
4
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
79994
0
2
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
63030
1
0
1
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
361000
1
0
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
505806
0
1
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)
4200
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
112181
2
0
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
107602
2
0
2
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
207993
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
500944
6
2
8
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
1294882
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
305236
35
1
36
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
293096
1
1
2
toma_13_ASD_discovery_cases
Affected individuals from 10 multiplex ASD families (nine with two affected probands, one with three affected probands)
21
Affected individuals met DSM-IV criteria for autism, Asperger disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), assessed using ADI-R (Autism-Diagnostic Interview-Revised) and ADOS-G (Autism Diagnostic Observation Schedule-Generic) diagnostic instruments.
Range, 4-29 yrs.
95.24% Male
93793
2
0
2
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
187033
1
0
1
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
39000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
64906
3
1
4
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
257790
12
3
15
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.
335634
0
0
0
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
2
0
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
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
63768
2
0
2
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
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
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
79994
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
12928
1
0
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
500944
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.
207992
21
0
21
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
293096
0
0
0
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
187033
N/A
N/A
N/A
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
39000
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
garber_24_ASD/ADHD/DD/ID_discovery_cases
Spain
CMA
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
aCGH (NimbleGen 135K array)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
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
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
toma_13_ASD_discovery_cases
Spanish, Caucasian
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
qPCR
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
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
girirajan_13a_ASD_discovery_controls1
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
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
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
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_cases-caseAB102
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
60922341
61018634
96294
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_cases-caseAB115
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
60292042
60335540
43499
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case16
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
60755919
60831890
75972
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300372
N/A
M
Developmental delay/intellectual disability
59971193
59972895
1703
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14186_3050
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60052906
60239937
187032
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14196_3200
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
61141532
61204990
63459
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18168_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60083004
60290993
207990
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20137_1254001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60267099
60313530
46432
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3009_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
61845125
61919271
74147
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3313_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62977407
63007407
30001
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3486_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60210809
60247359
36551
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3521_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62975756
63007407
31652
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4152_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60083004
60290993
207990
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4210_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
61619547
61702967
83421
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5332_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60672875
61004073
331199
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6162_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60274494
60401049
126556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8484_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62975756
63007407
31652
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8529_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60083004
60290993
207990
GRCh38
Deletion
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR660
21 yrs.
M
ASD, intellectual disability and epilepsy
Clinical features: moderate-to-severe intellectual disability, ASD (autistic features), challenging behavior (aggressive behavior), depression, dysmorphic features (hypertelorism, midface hypoplasia, prognathism). Age of seizure onset: 8 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, myoclonic seizures, focal dyscognitive seizures, evolution to bilateral or convulsive seizures.
Moderate-to-severe intellectual disability
59750573
61037683
1287111
GRCh38
Duplication
Yes
gai_11_ASD_discovery_cases-AU1407302
Autism
59948342
59961969
13628
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1582302
Autism
60357868
60380044
22177
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1616314
Autism
60266915
60370300
103386
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU078704
Autism
59921424
59943393
21970
Unknown
Deletion
No
garber_24_ASD/ADHD/DD/ID_discovery_cases-case3
11 yrs.
F
ASD, ADHD, developmental delay, and intellectual disability
Delivery by C-section, overweight (BMI 27.9, Z score 2.1), speech delay (first words at 2.5 years), fine motor delay, developmental delay, autism spectrum disorder, ADHD, dysmorphic features (broad nasal base, thick alae nasi, low hanging columella, large and smooth philtrum, mandibular prognathia, anteverted ears, deep-set eyes), enuresis nocturna, atrial septal defect, hypermetropia, strabismus, excessive eating. Family history: of Spanish ancestry.
Moderate intellectual disability (IQ 53), learning disability
60345537
62953601
2608065
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si129
6
M
Autism
ADOS score: 9. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.
60093181
60428808
335628
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11878.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
60549227
60839296
290070
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12058.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
60569243
60839972
270730
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12279.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
60099234
60429227
329994
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14265.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
58812245
58850185
37941
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001003
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
60102627
60855742
753116
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002488
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
61173973
61402744
228772
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004840
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
59743673
60984329
1240657
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004909
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
60460013
60532126
72114
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case3062
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
59958388
61036905
1078518
Unknown
Deletion
No
kousoulidou_13_ASD_discovery_cases-patient5
N/A
M
Autism
Autism
60086262
60277584
191323
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0009
25 yrs.
F
ASD, ADHD, OCD, epilepsy/seizures
Behavioral/psychiatric evaluation: ADHD, mood disorders (depressive mood), OCD, eating disorders, echolalia. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Congenital and developmental phenotypes: strabismus. Family history: positive for MDD.
IQ > 70
60501297
60591815
90519
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1060
67 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
60408194
60672864
264671
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1722
54 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
60438915
60817364
378450
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2381
57 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
60389119
60571624
182506
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0009
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
60501296
60591815
90520
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1060
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
60408193
60672864
264672
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1722
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
60438914
60817364
378451
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2381
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
60389118
60571624
182507
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3381
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
60727153
60962944
235792
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case46
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
61145277
61202170
56894
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case47
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
58804827
58884821
79995
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11211.p1
NA
M
ASD
NA
NA
59969816
60032845
63030
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown146
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)
60207732
60569443
361712
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0067-000
NA
M
ASD
moderate language delay, severe repetitive behavior, moderate dysmorphism, motor delay, alloimmune ITP
IQ/LOF Unknown
61114582
61620386
505805
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case6801
NA
ASD
NA
NA
60462000
60466000
4200
Unknown
Deletion
No
mosca_16_DCD_discovery_cases-case106303
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
60267861
60314119
46259
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case121003
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
60355315
60467494
112180
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-223-1
ASD
60284938
60392539
107602
Unknown
Deletion
No
nord_11_ASD_discovery_cases-255-1
ASD
60993360
61042159
48800
Unknown
Deletion
No
pinto_14_ASD_discovery_cases2-case18168_302
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
60083004
60290993
207990
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case101464
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
59841384
59851011
9628
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case170300
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
61605621
61615156
9536
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case57928
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
59831948
59843515
11568
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60701L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
60814214
60829360
15147
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case65344
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
61099987
61600930
500944
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case68637L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
59891746
60074408
182663
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case83152L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
60310452
60323411
12960
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseL656
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
60635843
60968263
332421
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP95-020
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
60402589
60659401
256813
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-086
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: yes.
Developmental delay: yes. Intellectual disability: N/A.
58915930
60210809
1294880
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11109.p1
4.5
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ 71
58742398
58746105
3708
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
62977407
63007407
30001
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11399.p1
11.9
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
60083004
60294808
211805
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11429.p1
11.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
63142916
63150904
7989
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
62727168
62729200
2033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11645.p1
8.7
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
58725367
58742746
17380
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11645.p1
8.7
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
58813141
58841752
28612
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
60355970
60478343
122374
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
62679547
62708646
29100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
60550687
60855984
305298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
62725627
62729200
3574
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11970.p1
5.3
M
Autism
NA
Full-scale IQ, 150; non-verbal IQ, 159; verbal IQ, 130
61843093
61849268
6176
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12091.p1
4.4
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
60406634
60435386
28753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
60851194
60858970
7777
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
61825333
61972349
147017
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
60324646
60431370
106725
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
60083004
60294808
211805
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12358.p1
9.3
F
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
58681653
58695451
13799
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12445.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
62801180
62846555
45376
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
62679547
62708646
29100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12572.p1
14.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
58725367
58742746
17380
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12587.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
62725627
62729200
3574
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12619.p1
7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
60417925
60478343
60419
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
61670300
61677860
7561
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
62725627
62729200
3574
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
58813141
58814158
1018
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12836.p1
6.8
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
60603677
60615320
11644
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
60083004
60290993
207990
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12946.p1
10.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 106
62725627
62732986
7360
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
58813141
58841752
28612
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13021.p1
12.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
62725627
62739194
13568
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
59150817
59222748
71932
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13083.p1
7.5
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
58813141
58824427
11287
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13083.p1
7.5
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
58725367
58735302
9936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13168.p1
7.9
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
61095109
61141532
46424
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
62725627
62732986
7360
GRCh38
Deletion
No
sebat_07_ASD_discovery_cases-63-562-6612
NA
M
Autism
NA
NA
61072100
61365196
293096
Unknown
Duplication
Yes
sebat_07_ASD_discovery_cases-89-3507-1
NA
M
Autism
NA
NA
60746033
60847540
101507
Unknown
Deletion
Yes
toma_13_ASD_discovery_cases-caseMT_109.3
13 yrs.
M
Autism
Diagnostic: meets research criteria for Autistic Disorder (ADI-R +; ADOS +; clinical diagnosis (DSM IV-TR+)); calibrated Severity Score = 7; evidence of onset prior to 3 years of age; language delay (phrases delayed). Adaptive behavior: Daily Living Skills: alteration (15th percentile); Communication: alteration (1st percentile); Social-Emotional: alteration (4th percentile). Aberrant behavior: aggressiveness, obsessive. Medical history: nothing of note. Family and developmental history: second of two affected siblings; no family history of ASD; parents with learning problems. Pregnancy and birth: vaginal delivery at 39 weeks; placental insufficiency; augmented labor. Paternal/maternal age at time of conception: 41 yrs./37 yrs.
Full Scale IQ: 53; Non-Verbal IQ: 64; Verbal IQ: 65
60493226
60587019
93794
GRCh38
Deletion
Yes
toma_13_ASD_discovery_cases-caseMT_109.4
25 yrs.
M
Autism and intellectual disability
Diagnostic: meets research criteria for Autistic Disorder (ADI-R +; ADOS +; clinical diagnosis (DSM IV-TR+)) and severe intellectual disability; calibrated Severity Score = 10; evidence of onset prior to 3 years of age; regression (word loss); language delay. Adaptive behavior: Daily Living Skills: alteration (3rd percentile); Communication: alteration (1st percentile); Social-Emotional: alteration (2nd percentile). Aberrant behavior: hyperactivity. Medical history: digestive problems. Family and developmental history: first of two affected siblings; no family history of ASD; parents with learning problems. Pregnancy and birth: vaginal delivery at 37 weeks; augmented labor; no anesthesia; no pregnancy or birth complications. Paternal/maternal age at time of conception: 29 yrs./25 yrs.
Full Scale IQ: 35; Non-Verbal IQ: 35; Verbal IQ: 37 (severe intellectual disability)
60493226
60587019
93794
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-14186-3050
N/A
M
ASD
N/A
N/A
60052906
60239937
187032
GRCh38
Deletion
No
wintle_10_ASD_discovery_cases-AN14613
39
M
Autism
Suspected autism
60503242
60542217
38976
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10007
N/A
M
Control
Control
60646203
60706400
60198
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control10496
N/A
F
Control
Control
61147025
61198647
51623
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_controls-control10506
N/A
M
Control
Control
61062586
61117936
55351
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control20071
N/A
M
Control
Control
60402589
60467494
64906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036016962_
N/A
N/A
Control
No previous psychiatric history
58849098
58929755
80658
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036021723_
N/A
N/A
Control
No previous psychiatric history
60351919
60486476
134558
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB324004_1007874674
N/A
N/A
Control
No previous psychiatric history
62977407
63007407
30001
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB370005_1007844590
N/A
N/A
Control
No previous psychiatric history
60083004
60292042
209039
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB434334_1007853771
N/A
N/A
Control
No previous psychiatric history
60083004
60290993
207990
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
N/A
N/A
Control
No previous psychiatric history
60402589
60660379
257791
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB598008_1007848531
N/A
N/A
Control
No previous psychiatric history
60613658
60678910
65253
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB741318_1007851257
N/A
N/A
Control
No previous psychiatric history
61845125
61919271
74147
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB907447_1007845323
N/A
N/A
Control
No previous psychiatric history
59502614
59534038
31425
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB964915_1007843932
N/A
N/A
Control
No previous psychiatric history
60448711
60487082
38372
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900030_900030
N/A
N/A
Control
No previous psychiatric history
63597457
63847374
249918
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900239_900239
N/A
N/A
Control
No previous psychiatric history
60690007
60733690
43684
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900911_900911
N/A
N/A
Control
No previous psychiatric history
62975756
63007407
31652
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902607_902607
N/A
N/A
Control
No previous psychiatric history
61755377
61799451
44075
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902946_902946
N/A
N/A
Control
No previous psychiatric history
62975756
63007407
31652
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control23
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
girirajan_13a_ASD_discovery_controls2-control24
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
kanduri_15_ASD_discovery_controls-control_split400
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
62073316
62137083
63768
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split773
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
60616790
60640906
24117
Unknown
Deletion
No
nord_11_ASD_discovery_controls-04C27491
Control
59831672
59844599
12928
Unknown
Deletion
sanders_11_ASD_discovery_controls-11000.s1
16.8
F
Control (matched sibling)
NA
NA
60550687
60565158
14472
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11616.s1
6.8
M
Control (matched sibling)
NA
NA
59912331
59914525
2195
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11625.s1
17.3
M
Control (matched sibling)
NA
NA
58725367
58742746
17380
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11625.s1
17.3
M
Control (matched sibling)
NA
NA
58813141
58841752
28612
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
58725367
58742746
17380
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
58813141
58841752
28612
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
60355970
60478343
122374
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
61493633
61505072
11440
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11888.s1
9.6
M
Control (matched sibling)
NA
NA
60083004
60290993
207990
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
62725627
62729200
3574
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11954.s1
6.8
F
Control (matched sibling)
NA
NA
59077282
59107906
30625
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
60851194
60863074
11881
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12210.s1
18.8
M
Control (matched sibling)
NA
NA
63038692
63045532
6841
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
60324646
60431370
106725
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12445.s1
6.6
M
Control (matched sibling)
NA
NA
58813141
58841752
28612
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12510.s1
4.1
M
Control (matched sibling)
NA
NA
62725627
62729200
3574
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
62679547
62708646
29100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12619.s1
4.7
M
Control (matched sibling)
NA
NA
60417925
60478343
60419
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12836.s1
4.2
M
Control (matched sibling)
NA
NA
60603677
60615320
11644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
58725367
58742746
17380
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
61095109
61138584
43476
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB102
Maternal
Simplex
FHIT
bacchelli_20_ASD_discovery_cases-caseAB115
Maternal
Simplex
FHIT
cucinotta_23_ASD_discovery_cases-case16
Paternal
FHIT
digregorio_17_DD/ID_discovery_cases-DECIPHER_300372
Paternal
FHIT
engchuan_15_ASD_discovery_cases-case14186_3050
Unknown
FHIT
engchuan_15_ASD_discovery_cases-case14196_3200
Unknown
FHIT
engchuan_15_ASD_discovery_cases-case18168_302
Unknown
FHIT
engchuan_15_ASD_discovery_cases-case20137_1254001
Unknown
FHIT
engchuan_15_ASD_discovery_cases-case3009_4
Unknown
PTPRG
engchuan_15_ASD_discovery_cases-case3313_3
Unknown
LINC00698
engchuan_15_ASD_discovery_cases-case3486_3
Unknown
FHIT
engchuan_15_ASD_discovery_cases-case3521_3
Unknown
LINC00698
engchuan_15_ASD_discovery_cases-case4152_1
Unknown
FHIT
engchuan_15_ASD_discovery_cases-case4210_1
Unknown
PTPRG
engchuan_15_ASD_discovery_cases-case5332_3
Unknown
PPIAP70,PPIAP71,FHIT
engchuan_15_ASD_discovery_cases-case6162_4
Unknown
FHIT
engchuan_15_ASD_discovery_cases-case8484_201
Unknown
LINC00698
engchuan_15_ASD_discovery_cases-case8529_201
Unknown
FHIT
fry_16_DD/ID/EP/ASD_discovery_cases-caseR660
Solid phase hybridization (Illumina)
Paternal
MIR548BB,PPIAP70,PPIAP71,FHIT
gai_11_ASD_discovery_cases-AU1407302
Inherited
FHIT (intronic)
gai_11_ASD_discovery_cases-AU1582302
Inherited
FHIT (intronic)
gai_11_ASD_discovery_cases-AU1616314
Inherited
FHIT (intronic)
gai_11_ASD_replication_cases-AU078704
Inherited
FHIT (intronic)
garber_24_ASD/ADHD/DD/ID_discovery_cases-case3
De novo
FHIT,FEZF2,C3orf14,ID2B,LINC00698,RPL10AP6,PTPRG-AS1,PPIAP70,PTPRG,MIR548BB,RNU2-10P,RN7SL863P,RNU6-139P,PPIAP71,CADPS
girirajan_11_ASD_discovery_cases-Si129
Unknown
Simplex
FHIT
girirajan_13a_ASD_discovery_cases-11878.p1
Unknown
Simplex
Unknown
MIR548BB,PPIAP70,PPIAP71,FHIT
girirajan_13a_ASD_discovery_cases-12058.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR548BB,PPIAP70,PPIAP71,FHIT
girirajan_13a_ASD_discovery_cases-12279.p1
Unknown
Simplex
Unknown
FHIT
girirajan_13a_ASD_discovery_cases-14265.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
C3orf67-AS1,C3orf67
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001003
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR548BB,PPIAP70,PPIAP71,FHIT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002488
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FHIT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004840
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR548BB,PPIAP70,PPIAP71,FHIT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004909
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
FHIT
kanduri_15_ASD_discovery_cases-case3062
Maternal
Unknown
Unknown
FHIT
kousoulidou_13_ASD_discovery_cases-patient5
qPCR
Maternal
Unknown
Unknown
FHIT
kushima_18_ASD_discovery_cases-caseASD0009
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
FHIT
kushima_18_SCZ_discovery_cases-caseSCZ1060
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
MIR548BB,FHIT
kushima_18_SCZ_discovery_cases-caseSCZ1722
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
MIR548BB,PPIAP70,PPIAP71,FHIT
kushima_18_SCZ_discovery_cases-caseSCZ2381
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
FHIT
kushima_22_ASD_discovery_cases-caseASD0009
qRT-PCR
Unknown
FHIT
kushima_22_SCZ_discovery_cases-caseSCZ1060
qRT-PCR
Unknown
FHIT,MIR548BB
kushima_22_SCZ_discovery_cases-caseSCZ1722
qRT-PCR
Unknown
FHIT,PPIAP70,MIR548BB,PPIAP71
kushima_22_SCZ_discovery_cases-caseSCZ2381
qRT-PCR
Unknown
FHIT
kushima_22_SCZ_discovery_cases-caseSCZ3381
qRT-PCR
Unknown
FHIT,PPIAP71
larson_17_ASD_discovery_cases-case46
Unknown
Unknown
FHIT
larson_17_ASD_discovery_cases-case47
Unknown
Unknown
C3orf67-AS1,C3orf67
levy_11_ASD_discovery_cases-11211.p1
Paternal
Simplex
Segregated
FHIT
maini_18_ASD/DD/ID_discovery_cases-case_unknown146
Paternal
Unknown
Unknown
FHIT
marshall_08_ASD_discovery_cases-NA0067-000
qPCR, qmPCR
Unknown
NA
NA
FHIT,PTPRG
morrow_08_ASD_discovery_cases-case6801
Maternal
NA
NA
FHID
mosca_16_DCD_discovery_cases-case106303
Unknown (paternal DNA not available)
Unknown
Unknown
FHIT
mosca_16_DCD_discovery_cases-case121003
Unknown (paternal DNA not available)
Unknown
Unknown
FHIT
nord_11_ASD_discovery_cases-223-1
Maternal
FHIT
nord_11_ASD_discovery_cases-255-1
Paternal
FHIT
pinto_14_ASD_discovery_cases2-case18168_302
qPCR
Maternal
Simplex
(not tested)
FHIT
prasad_12_ASD_discovery_cases-case101464
Unknown
Unknown
Unknown
FHIT
prasad_12_ASD_discovery_cases-case170300
Unknown
Unknown
Unknown
PTPRG
prasad_12_ASD_discovery_cases-case57928
Unknown
Unknown
Unknown
FHIT
prasad_12_ASD_discovery_cases-case60701L
Unknown
Unknown
Unknown
FHIT
prasad_12_ASD_discovery_cases-case65344
Unknown
Unknown
Unknown
PTPRG,FHIT
prasad_12_ASD_discovery_cases-case68637L
Unknown
Unknown
Unknown
FHIT
prasad_12_ASD_discovery_cases-case83152L
Unknown
Unknown
Unknown
FHIT
prasad_12_ASD_discovery_cases-caseL656
qPCR
Maternal
Unknown
Unknown
FHIT
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP95-020
Not tested by qPCR
Unknown
Unknown
Unknown
MIR548BB,FHIT
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-086
qPCR
Maternal
Unknown
Unknown
C3orf67-AS1,FHIT,C3orf67
sanders_11_ASD_discovery_cases-11109.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
C3orf67
sanders_11_ASD_discovery_cases-11336.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC00698
sanders_11_ASD_discovery_cases-11399.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-11429.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11505.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CADPS
sanders_11_ASD_discovery_cases-11645.p1
Both parents
Simplex (quad-proband matched)
Segregated
C3orf67
sanders_11_ASD_discovery_cases-11645.p1
Unknown
Simplex (quad-proband matched)
Not segregated
C3orf67-AS1,C3orf67
sanders_11_ASD_discovery_cases-11711.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-11846.p1
Maternal
Simplex (trio)
NA
CADPS
sanders_11_ASD_discovery_cases-11878.p1
Paternal
Simplex (trio)
NA
MIR548BB,PPIAP70,PPIAP71,FHIT
sanders_11_ASD_discovery_cases-11941.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CADPS
sanders_11_ASD_discovery_cases-11970.p1
Maternal
Simplex (trio)
NA
PTPRG
sanders_11_ASD_discovery_cases-12091.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-12117.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-12149.p1
Paternal
Simplex (trio)
NA
PTPRG
sanders_11_ASD_discovery_cases-12219.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-12219.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-12358.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12445.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-139P,CADPS
sanders_11_ASD_discovery_cases-12518.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CADPS
sanders_11_ASD_discovery_cases-12572.p1
Unknown
Simplex (quad-proband matched)
Not segregated
C3orf67
sanders_11_ASD_discovery_cases-12587.p1
Paternal
Simplex (trio)
NA
CADPS
sanders_11_ASD_discovery_cases-12619.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-12701.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PTPRG
sanders_11_ASD_discovery_cases-12710.p1
Maternal
Simplex (trio)
NA
CADPS
sanders_11_ASD_discovery_cases-12790.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C3orf67
sanders_11_ASD_discovery_cases-12836.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-12894.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-12946.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
CADPS
sanders_11_ASD_discovery_cases-12998.p1
Unknown
Simplex (trio)
NA
C3orf67-AS1,C3orf67
sanders_11_ASD_discovery_cases-13021.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CADPS
sanders_11_ASD_discovery_cases-13065.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13083.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C3orf67
sanders_11_ASD_discovery_cases-13083.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C3orf67
sanders_11_ASD_discovery_cases-13168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FHIT
sanders_11_ASD_discovery_cases-13296.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CADPS
sebat_07_ASD_discovery_cases-63-562-6612
390K ROMA or Agilent 244K aCGH
De novo
Simplex
NA
FHIT
sebat_07_ASD_discovery_cases-89-3507-1
390K ROMA or Agilent 244K aCGH
De novo
Simplex
NA
FHIT
toma_13_ASD_discovery_cases-caseMT_109.3
qPCR
Inherited
Multiplex
Segregated
FHIT
toma_13_ASD_discovery_cases-caseMT_109.4
qPCR
Inherited
Multiplex
Segregated
FHIT
walker_13_ASD_discovery_cases-case8-14186-3050
Unknown
Simplex
Unknown
FHIT
wintle_10_ASD_discovery_cases-AN14613
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
FHIT
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10007
Unknown
PPIAP70,FHIT
bacchelli_20_ASD_discovery_controls-control10496
Unknown
FHIT
bacchelli_20_ASD_discovery_controls-control10506
Unknown
FHIT
bacchelli_20_ASD_discovery_controls-control20071
Unknown
FHIT
engchuan_15_ASD_discovery_controls-control110036016962_
Unknown
C3orf67-AS1,C3orf67
engchuan_15_ASD_discovery_controls-control110036021723_
Unknown
FHIT
engchuan_15_ASD_discovery_controls-controlB324004_1007874674
Unknown
LINC00698
engchuan_15_ASD_discovery_controls-controlB370005_1007844590
Unknown
FHIT
engchuan_15_ASD_discovery_controls-controlB434334_1007853771
Unknown
FHIT
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
Unknown
MIR548BB,FHIT
engchuan_15_ASD_discovery_controls-controlB598008_1007848531
Unknown
MIR548BB,FHIT
engchuan_15_ASD_discovery_controls-controlB741318_1007851257
Unknown
PTPRG
engchuan_15_ASD_discovery_controls-controlB907447_1007845323
Unknown
engchuan_15_ASD_discovery_controls-controlB964915_1007843932
Unknown
FHIT
engchuan_15_ASD_discovery_controls-controlHABC_900030_900030
Unknown
SNTN,THOC7,SYNPR,C3orf49
engchuan_15_ASD_discovery_controls-controlHABC_900239_900239
Unknown
PPIAP70,PPIAP71,FHIT
engchuan_15_ASD_discovery_controls-controlHABC_900911_900911
Unknown
LINC00698
engchuan_15_ASD_discovery_controls-controlHABC_902607_902607
Unknown
PTPRG
engchuan_15_ASD_discovery_controls-controlHABC_902946_902946
Unknown
LINC00698
girirajan_13a_ASD_discovery_controls2-control23
Unknown
FHIT
girirajan_13a_ASD_discovery_controls2-control24
Unknown
FHIT
kanduri_15_ASD_discovery_controls-control_split400
Unknown
PTPRG
kanduri_15_ASD_discovery_controls-control_split773
Unknown
FHIT (intronic)
nord_11_ASD_discovery_controls-04C27491
FHIT
sanders_11_ASD_discovery_controls-11000.s1
Paternal
Simplex (quad)
NA
FHIT
sanders_11_ASD_discovery_controls-11616.s1
Paternal
Simplex (quad)
NA
FHIT
sanders_11_ASD_discovery_controls-11625.s1
Maternal
Simplex (quad)
NA
C3orf67
sanders_11_ASD_discovery_controls-11625.s1
Maternal
Simplex (quad)
NA
C3orf67-AS1,C3orf67
sanders_11_ASD_discovery_controls-11657.s1
Maternal
Simplex (quad)
NA
C3orf67
sanders_11_ASD_discovery_controls-11657.s1
Unknown
Simplex (quad)
NA
C3orf67-AS1,C3orf67
sanders_11_ASD_discovery_controls-11711.s1
Paternal
Simplex (quad)
NA
FHIT
sanders_11_ASD_discovery_controls-11766.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11888.s1
Maternal
Simplex (quad)
NA
FHIT
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
CADPS
sanders_11_ASD_discovery_controls-11954.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Paternal
Simplex (quad)
NA
FHIT
sanders_11_ASD_discovery_controls-12210.s1
Unknown
Simplex (quad)
NA
LINC00698
sanders_11_ASD_discovery_controls-12219.s1
Paternal
Simplex (quad)
NA
FHIT
sanders_11_ASD_discovery_controls-12445.s1
Paternal
Simplex (quad)
NA
C3orf67-AS1,C3orf67
sanders_11_ASD_discovery_controls-12510.s1
Maternal
Simplex (quad)
NA
CADPS
sanders_11_ASD_discovery_controls-12518.s1
Paternal
Simplex (quad)
NA
CADPS
sanders_11_ASD_discovery_controls-12619.s1
Maternal
Simplex (quad)
NA
FHIT
sanders_11_ASD_discovery_controls-12836.s1
Maternal
Simplex (quad)
NA
FHIT
sanders_11_ASD_discovery_controls-13048.s1
Unknown
Simplex (quad)
NA
C3orf67
sanders_11_ASD_discovery_controls-13168.s1
Maternal
Simplex (quad)
NA
FHIT
No Animal Model Data Available