16p13.2CNV Type: Deletion-Duplication
Largest CNV size: 493598 bp
Statistics Box:
Number of Reports: 41
Number of Reports: 41
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.
Duplication
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
Deletion
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to 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
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
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
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
1306484
0
1
1
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
317315
1
1
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
388715
0
1
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
137000
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
779739
22
14
36
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
164455
7
2
9
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
102967
4
0
4
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
545000
6
2
8
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
176736
4
0
4
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
445044
0
3
3
hao_15_ASD/DD/ID_discovery_cases
Subjects with deletions affecting the USP7 gene identified from databases from the Molecular Genetics Laboratory at Baylor College of Medicine (subjects 3, 4, and 5), Signature Genomics Laboratory (subject 1), or DECIPHER (subjects 2 and 7)
6
All six cases present with developmental delay/intellectual disability (DD/ID); five cases diagnosed with ASD (three based on DSM-V criteria, diagnostic tools N/A for two other cases); four cases present with seizures.
Range, 5-10 yrs.
83.33% Male
280000
3
0
3
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
885506
7
7
14
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
110078
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
41690
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
11105
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
370912
0
4
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
30567
2
0
2
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
582087
6
0
6
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
237467
2
0
2
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
109000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
493598
0
5
5
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
45000
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
85060
1
0
1
mikhail_11_DD/ID_discovery_cases
Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)
1200
Developmental delay (DD), intellectual disability (ID), ASD, and/or multiple congenital anomalies
NA
NA
353000
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
139997
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
241000
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
682385
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
78192
0
1
1
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
176737
4
0
4
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
9651
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
74903
3
1
4
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
205225
0
1
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
53000
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
482874
16
12
28
servetti_21_ASD/ID/EP_discovery_cases
Individuals with complex neurodevelopmental disorder (NDD) phenotypes born to non-consanguineous parents, including one affected sib pair.
12
All 12 cases presented with varying degrees of intellectual disability (ID); four cases also presented with epilepsy, while three cases also presented with autism spectrum disorder (ASD).
NA
83.33% Male
1108820
0
1
1
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
368000
0
1
1
sherman_21_ASD_discovery_cases
ASD probands from the Simons Simplex Collection (n=2,594) and the SPARK cohort (n=9,483) screened for mosaic CNVs (mCNVs)
12077
Cohort diagnosis of ASD
Range, 3-40+ yrs.
NA
385411
0
1
1
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
194280
0
1
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
29200
1
0
1
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
449000
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
144185
0
3
3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
326283
0
1
1
zhao_13_DD/ID/ASD/EP_discovery_cases
Consecutive pediatric patients referred for chromosomal microarray analysis (CMA) (KingMed Genome Diagnostic Laboratory, Guangzhou, China)
2124
Patients had one or more of the following clinical findings at time of referral: intellectual disability (ID), developmental delay (DD), multiple congenital anomalies (MCA), ASD, dysmorphism, seizures, learning disabilities, or speech delays.
N/A
N/A
825382
12
1
13
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
83944
1
0
1
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
327045
9
21
30
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
176736
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
0
0
0
0
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
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
274673
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
130623
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
175308
2
0
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
60845
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
74903
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.
272692
12
7
19
sherman_21_ASD_discovery_controls
Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
5500
Control (unaffected siblings of ASD probands)
Range, 3-18 yrs.
NA
0
0
0
0
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
29200
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
144185
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), qPCR
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
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
qPCR
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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)
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hao_15_ASD/DD/ID_discovery_cases
Caucasian (n=5), Turkish (n=1)
CMA
CMA platform N/A
None (CNV validation status N/A)
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
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
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
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
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
mikhail_11_DD/ID_discovery_cases
NA
aCGH
Agilent 4 X 44K, Agilent 2 X 105K
Feature Extraction V9.5, DNA Analytics V4.0
FISH
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or 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
qPCR
servetti_21_ASD/ID/EP_discovery_cases
Italy
aCGH
Agilent Human Genome CGH 180K
NA
Agilent CytoGenomics
FISH or qRT-PCR
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
sherman_21_ASD_discovery_cases
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
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
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhao_13_DD/ID/ASD/EP_discovery_cases
China
aCGH
Agilent Human Genome 244K
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
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
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
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sherman_21_ASD_discovery_controls
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
None
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
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
calderoni_20_ASD_discovery_cases-caseP3
3 yrs. 6 mos.
F
ASD
Language and communication evaluation: speech delay/absent speech.
IQ 70
8921253
10227736
1306484
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11168
NA
M
ASD
NA
NA
8801823
9119138
317316
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
8962816
8963917
1102
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case246
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
9998190
10386904
388715
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300672
N/A
M
Cognitive impairment
Abnormal facial shape
Cognitive impairment
8784150
8921312
137163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1208_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9108113
9160304
52192
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14146_2440
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6990829
7076731
85903
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14158_2580
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6607304
6639091
31788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14229_3630
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6607304
6639091
31788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14325_4390
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9176154
9247239
71086
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14330_4440
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6834745
6913769
79025
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14334_4480
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8987133
9091037
103905
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16041_1571054001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6543515
6583079
39565
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16075_1571044001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9532879
9728443
195565
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18100_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6607850
6639091
31242
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3095_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6607304
6639091
31788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3097_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6607304
6639091
31788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3169_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7797395
8577134
779740
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3318_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8594858
8698055
103198
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3395_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6604690
6639091
34402
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3518_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7966706
8005736
39031
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3621_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6815180
6996257
181078
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4182_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6819311
6877241
57931
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)
6730568
7039818
309251
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4305_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6876260
7052996
176737
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4418_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7076628
7149459
72832
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4461_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6812010
6916552
104543
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4518_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6818285
6865482
47198
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4525_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8501691
8561631
59941
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4532_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7083247
7146045
62799
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4541_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6774822
6826983
52162
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5208_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8635267
8713458
78192
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5244_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6820627
6879559
58933
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9687136
9728443
41308
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6264_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6576429
6619591
43163
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6317_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6814527
6877241
62715
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6408_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6800713
6842618
41906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8433_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9185855
9319765
133911
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8433_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8654860
8932543
277684
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8506_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7747807
7801411
53605
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8567_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8433919
8554853
120935
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1254301
Autism
8435410
8542079
106670
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1254302
Autism
8435410
8542079
106670
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1344301
Autism
10024200
10106606
82407
Unknown
Deletion
Yes
gai_11_ASD_discovery_cases-AU1344302
Autism
10024200
10106606
82407
Unknown
Deletion
Yes
gai_11_ASD_discovery_cases-AU1393301
Autism
6928412
7091334
162923
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1393303
Autism
6928412
7091334
162923
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1393306
Autism
6928412
7092866
164455
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1459302
Autism
6747462
6784096
36635
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1544304
Autism
7752132
7869655
117524
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU015903
Autism
7049010
7151976
102967
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU016803
Autism
6376717
6404811
28095
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU031004
Autism
8849319
8865964
16646
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU038304
Autism
7395782
7440532
44751
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-11464.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
6755492
6856682
101191
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-11551.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
8708642
9248642
540001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12265.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
8658642
8948642
290001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13414.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
6316865
6338847
21983
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13861.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
7516548
7602703
86156
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14073.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
7054794
7076956
22163
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU015903
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
7059349
7161261
101913
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1393301
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
6936111
7097771
161661
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case17855
NA
NA
ASD/autism
NA
NA
6876260
7052996
176737
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case37350
NA
NA
ASD/autism
NA
NA
6876260
7052996
176737
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case7636
NA
NA
ASD/autism
NA
NA
6876260
7052996
176737
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case7851
NA
NA
ASD/autism
NA
NA
6876260
7052996
176737
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case15D1307
6 mos. 18 days
M
Developmental delay
8898798
9319496
420699
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case18D091
3 yrs. 11 mos.
F
Developmental delay/Intellectual disability
Microcephaly
8807325
9068357
261033
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY92
3 yrs. 11 mos.
M
ASD
9841248
10286291
445044
GRCh38
Duplication
No
hao_15_ASD/DD/ID_discovery_cases-subject2
10 yrs.
M
ASD and developmental delay/intellectual disability
Case diagnosed with autism spectrum disorder based on DSM-V criteria. Birth/neonatal history: born at term via spontaneous vaginal delivery to 45-year-old mother without complication; birth weight of 5 lbs. 15 oz. Developmental milestones: sitting with support and walking were delayed at 15 and 27 months, respectively. Motor and musculoskeletal evaluation: muscular hypotonia. Behavioral/psychiatric evaluation: described as having aggressive behavior, with associated shouting. Brain imaging: brain MRI revealed abnormal occipital periventricular white matter signal. Vision and hearing evaluation: strabismus. Dysmorphic features: large fontanelle with delayed closure, bilateral cryptorchidism, low set ears, 5th finger clinodactyly, trigonocephaly, hallux valgus. Case identified in DECIPHER database.
Requires special education
8864832
8956454
91623
GRCh38
Deletion
No
hao_15_ASD/DD/ID_discovery_cases-subject5
5 yrs.
M
ASD, developmental delay/intellectual disability, and seizures
Case diagnosed with autism spectrum disorder based on DSM-V criteria. Birth/neonatal history: born at full term via SVD to 23-year-old mother; showed initial respiratory distress requiring oxygen, but was quickly weaned; NICU for six days; birth weight 5 lbs. 9 oz. Developmental milestones: diagnosed with developmental delay based on inability to sit without support until age of 16 months and first walking at 36 months of age; first word spoken at 24 months of age. Motor and musculoskeletal evaluation: muscular hypotonia. Behavioral/psychiatric evaluation: very aggressive behavior in the form of temper tantrums; behavior becomes aggressive (slapping, biting, throwing objects) with any changes to a strict routine; rigid, requires strict routeines, has some obsessive-compulsive traits. Epilepsy/seizures: seizures. Brain imaging: brain MRI revealed mild periventricular leukomalacia with scalloping of the lateral ventricles, white matter loss, and incomplete myelination. Vision and hearing evaluation: bilateral iris colobomas. Dysmorphic features: unilateral cryptorchidism (corrected via orchidopexy). Case identifed in Molecular Genetics Laboratory at Baylor College of Medicine database.
Developmental delay
8875795
9143148
267354
GRCh38
Deletion
No
hao_15_ASD/DD/ID_discovery_cases-subject7
8 yrs.
M
Developmental delay
Birth/neonatal history: no complications noted; born to 30-year-old mother. Developmental milestones: global developmental delay, including delays in both speech and motor development. Motor and musculoskeletal evaluation: no observance of hypotonia. Behavioral/psychiatric evaluation: no observation of aggressive behavior. Epilepsy/seizures: none observed. Dysmorphic features: hypogonadism with a micropenis; ears described as large, hands reported to be small. Case identified in DECIPHER database.
Global developmental delay; requires special education
8767799
9047681
279883
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000121
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6735606
6996218
260613
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001102
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8767999
8939801
171803
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001963
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8831989
9153027
321039
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002292
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8544481
8903449
358969
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002306
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6698766
7028200
329435
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002429
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7503171
7752948
249778
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002456
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6327243
7195429
868187
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002464
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7689761
7761625
71865
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002635
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6717241
7051313
334073
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002661
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6717241
7051313
334073
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004321
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8752152
8979353
227202
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004397
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8752152
9094202
342051
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004409
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8677203
9562709
885507
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004550
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6870911
7020688
149778
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case2964
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.
9598191
9708268
110078
Unknown
Deletion
No
kousoulidou_13_ASD_discovery_cases-patient10
N/A
M
DD and autistic features
Psychomotor delay, autistic features. Received a preliminary diagnosis of ASD at age of 2 years. Suffers from social communication disorder, speech impairment, learning difficulties, global developmental delay, stereotyped behavior, and hyperactivity. Family history: none reported.
Global developmental delay, learning difficulties
8714542
8756238
41697
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13327.p1
N/A
M
ASD
ASD proband from SSC quad family 13327. SRS score of 90.
Full-scale IQ (FSIQ) score of 103.
8635038
8646143
11106
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11551.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
8746000
9116912
370913
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12265.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
8746000
8923413
177414
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13327.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
8772779
8903402
130624
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13327.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
8639090
8646143
7054
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0976
12 yrs.
M
ASD
No additional clinical information reported for this individual. Family history: unknown.
6759006
6789572
30567
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD1001
8 yrs.
F
ASD
No additional clinical information reported for this individual. Family history: unknown.
6759006
6789572
30567
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0076
28 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 21 years of age (core symptoms include bizarre speech and behavior, irritability, anxiety). Physical comorbidities: asthma, cholelithiasis, Congenital and developmental phenotypes: strabismus. Family history: positive.
IQ > 70
7029167
7099643
70477
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0613
64 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
6631947
7029167
397221
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1786
37 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
6622570
6720408
97839
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2138
56 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
6773909
6978067
204159
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2452
37 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
6355716
6937802
582087
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2653
54 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
6360351
6582207
221857
GRCh38
Deletion
N/A
laffin_12_CAS_discovery_cases-case4
3-6 yrs.
NA
CAS
Years of apraxia treatment: 4. Familial status: negative. Language impairment: impairments in language onset and comprehension. Motor impairment: impairments in gross motor and oral-nonverbal motor assessment tasks.
No cognitive impairment
8689470
8817336
127867
GRCh38
Deletion
No
laffin_12_CAS_discovery_cases-case6
7-9 yrs.
NA
CAS
Years of apraxia treatment: 6. Familial status: negative. Language impairment: impairments in language onset and expression. Motor impairment: impairment in gross motor assessment tasks.
Cognitive impairment
8724195
8961662
237468
GRCh38
Deletion
No
lesca_12_EP_discovery_cases-caseEA85
NA
F
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: Nocturnal, PS. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 87, performance IQ 87 (at 7 years of age).
10152382
10261005
108624
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11071.p1
NA
F
ASD
NA
NA
8919075
9160217
241143
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11168.p1
NA
M
ASD
NA
NA
8804801
9152597
347797
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11231.p1
NA
M
ASD
NA
NA
8734350
8795194
60845
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11551.p1
NA
M
ASD
NA
NA
8714712
9208309
493598
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12265.p1
NA
M
ASD
NA
NA
8647236
8957124
309889
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case154
5 yrs.
M
Developmental delay and intellectual disability
Birth history: born at 40 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: pes planus. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: neurological anomalies, ocular anomalies, skin softness/joint laxity. Dysmorphic features: supernumerary nipples. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Moderate intellectual disability
8774440
8820012
45573
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0266-003
NA
M
ASD
NA
NA
6823787
6908847
85061
GRCh38
Deletion
Yes
mikhail_11_DD/ID_discovery_cases-patient4
3 yrs.
M
Developmental delay
Language delay. Macrocephaly. Growth parameters: height, 92 cm (10-25th %ile); weight, 12.8 kg (10-25th %ile); head circumference, 46 cm (<5th %ile).
Developmental delay
6560761
6914156
353396
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case107103
N/A
M
DCD/ADHD
Ancestry: Chinese. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
8714620
8854616
139997
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam1091Proband10781
N/A
M
ASD
Additional clinical profile info N/A
ID
8685733
8926952
241220
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250971
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Depressed/flat nasal bridge, hypertelorism, kyphosis, intellectual disability/developmental delay, prominent ears.
Developmental delay/intellectual disability
8724268
9406653
682386
GRCh38
Duplication
N/A
pinto_10_ASD_discovery_cases-case5208_3
NA
M
ASD
Low average language, no epilepsy; mother treated with valproic acid for epilepsy during pregnancy, fetal tachycardia during labor, forceps delivery at 33 1/2 wks, poor respiratory effort, on ventilation; CT scan: mild cortical atrophy, normal EEGs; neurological exam: tight hamstrings, toe walking; dysmorphic features: thin upper lip, small chin, flattened nasolabial fold, flattened occiput, small hands/fingers, lingual frenulum
Above average nonverbal IQ
8635267
8713458
78192
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case4182_1
2 yrs.
M
ASD
Autism (based on medical history and ADI-R), verbal with history of language regression and delay, no dysmorphic features, asthma. Family history: identical twin also has ASD; mother with hypothyroidism, vision loss, possible multiple sclerosis, and trisomy X (retroverted uterus, menopause at age 43); father has features of ASD, irritability and aggression.
Borderline ID (Vineland Adaptive Behavior Composite score 70 at 2 y)
6876260
7052996
176737
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case4210_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
6876260
7052996
176737
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case4461_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
6876260
7052996
176737
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case4518_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
6876260
7052996
176737
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case03HI2424A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0931305; NDAR ID NDAR_INVRC286DEU)
8625664
8635314
9651
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case107204L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
7153160
7181550
28391
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case44307
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
6577428
6601128
23701
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68257
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
6810652
6866528
55877
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case76286
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
8635276
8710178
74903
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_258
4 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
9132094
9337318
205225
GRCh38
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-ASDcase11
41 yrs.
M
ASD
Macrocephaly
6946803
7000015
53213
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11071.p1
13.9
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
8920528
9160304
239777
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
8827024
9146129
319106
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
8424975
8482254
57280
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11349.p1
7
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
8989510
9008531
19022
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
6708921
6852147
143227
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11383.p1
7.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 95; verbal IQ, 95
6332433
6382407
49975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11387.p1
8.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
7012444
7032044
19601
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
6753844
6861717
107874
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11521.p1
17.1
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 101; verbal IQ, 128
7076628
7150562
73935
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
8718806
9201680
482875
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11718.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
6900042
6951230
51189
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
8639214
8649370
10157
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11834.p1
10.5
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
9452059
9468888
16830
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11922.p1
11.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
6607304
6633074
25771
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11931.p1
6.6
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
7596756
7598443
1688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
8639214
8649370
10157
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
8682896
8730293
47398
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12235.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
6825403
6860121
34719
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
8639214
8649370
10157
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
7596756
7598443
1688
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
7596756
7598266
1511
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12613.p1
12.6
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
6590395
6608708
18314
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12617.p1
10.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
8639214
8649370
10157
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
7163391
7189922
26532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12764.p1
15.2
F
ASD
NA
Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
7596756
7598443
1688
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
6445490
6448713
3224
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13327.p1
12.6
M
Aspergers
NA
Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
8771962
8902520
130559
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13327.p1
12.6
M
Aspergers
NA
Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
8620763
8698055
77293
GRCh38
Duplication
No
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC01
NA
F
Intellectual disability and epilepsy
Language disorder, coordination disorder, atypical behaviors, attention disorder, hyperactivity, self-aggressive behaviors, hypotonia, epilepsy, sleep disturbance, gastrointestinal disorders, dysphagia, selective feeding
Intellectual disability
8876126
9984945
1108820
GRCh38
Duplication
Yes
shen_10_ASD_discovery_cases-ASD-09-071
NA
M
PDD-NOS
NA
NA
6704660
7072614
367955
GRCh38
Duplication
No
sherman_21_ASD_discovery_cases-SPARK_SP0012573
8 yrs.
M
ASD
ASD proband from the SPARK cohort. SCQ summary score: NA. Mosaic cell fraction: 0.4033. It was not reported which haplotype the CNV occurs on.
8774782
9160192
385411
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR029-C8-3169.004
NA
ASD
NA
NA
8251127
8445407
194281
GRCh38
Duplication
Yes
wintle_10_ASD_discovery_cases-AN13872
5
F
Autism
Autism
7002773
7031961
29189
GRCh38
Deletion
Yes
xu_16_ASD/DD/ID_discovery_cases-case37
N/A
F
Phelan-McDermid syndrome
Profound speech delay, motor developmental delay, repetitive behaviors, significant self-injurious behaviors, aggression
Severe intellectual disability
8752002
9201485
449484
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case492
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
8633627
8689114
55488
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case493
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
8759203
8903387
144185
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case494
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
8759203
8903387
144185
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1525-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
8805718
9132000
326283
GRCh38
Duplication
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case10
N/A
F
Hypotonia
Neurological problems: none. Dysmorphic features: none. Other organ abnormalities/disorders: hypotonia, tracheal malasia.
Normal
6876817
7021347
144531
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case11
N/A
F
Epilepsy and developmental delay
Developmental milestones: speech delay. Neurological problems: epilepsy, abnormal EEG with a slow background and temporal spikes, and staring spells. Dysmorphic features: plagiocephaly and infantile torticolli. Other organ abnormalities/disorders: hearing impairment.
Global developmental delay
6893109
6922447
29339
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case12
N/A
F
Intellectual disability and epilepsy
Neurological problems: epilepsy. Behavioral/psychiatric evaluation: aggressive behavior. Dysmorphic features: none. Other organ abnormalities/disorders: none.
Intellectual disability
7089542
7143207
53666
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case13
N/A
M
Epilepsy
Neurological problems: epilepsy, ventriculomegaly. Dysmorphic features: severe microcephaly and retrognathia. Other organ abnormalities/disorders: paralyzed vocal cords, bilateral equinovarus, contractures of knees and hips bilaterally.
Normal
7142807
7180655
37849
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case14
N/A
M
MCA
Neurological problems: none. Dysmorphic features: none. Other organ abnormalities/disorders: atrioventricular canal, transposition of the great arteries, pulmonary valve atresia, supraventricular tachycardia, and congenital absence of spleen.
N/A
6699118
7072755
373638
GRCh38
Duplication
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case2
N/A
M
Autism and developmental delay
Behavioral/psychiatric evaluation: autism. Neurological problems: none. Dysmorphic features: macrocephaly. Other organ abnormalities/disorders: hypothyroid at birth, history of lactic acidosis.
Global developmental delay
6408586
6427165
18580
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case3
N/A
M
Epilepsy
Neurological problems: epilepsy. Dysmorphic features: none. Other organ abnormalities/disorders: gastroesophageal reflux (GERD), voiding dysfunction and nocturnal enuresis, and adenoid hypertrophy.
Normal
6510666
6747045
236380
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case4
N/A
M
Epilepsy and developmental delay
Developmental milestones: speech delay. Neurological problems: perinatal hypoxic ischemic encephalopathy with resultant severe cystic encephalomalacia, focal epilepsy, cerebral palsy, asymmetric spasticity. Dysmorphic features: severe microcephaly. Other organ abnormalities/disorders: none.
Global developmental delay
6577936
6619611
41676
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case5
N/A
F
Congenital heart defects (CHD)
Neurological problems: none. Dysmorphic features: none. Other organ abnormalities/disorders: bicuspid aortic valve with aortic dilation, anomalous superior left pulmonary venous return.
Normal
6607624
6769801
162178
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case6
N/A
M
Developmental delay
Neurological problems: none. Dysmorphic features: macrocephaly. Other organ abnormalities/disorders: hypotonia, kyphosis.
Severe global developmental delay
6762061
7587442
825382
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case7
N/A
M
Learning disabilities
Neurological problems: encephalopathy. Dysmorphic features: none. Other organ abnormalities/disorders: short stature.
Alexia, dyslexia
6791976
6958523
166548
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case8
N/A
M
Epilepsy and developmental delay
Developmental milestones: speech delay. Neurological problems: epilepsy. Dysmorphic features: none. Other organ abnormalities/disorders: hypospadias.
Mild developmental delay
6839207
6914156
74950
GRCh38
Deletion
Yes
zhao_13_DD/ID/ASD/EP_discovery_cases-case9
N/A
M
Developmental delay
Neurological problems: poorly developed corpus callosum. Dysmorphic features: macrocephaly. Other organ abnormalities/disorders: hearing impairment, hypernatremia and renal insufficiency, a diagnosis of mild hemophilia A.
Severe global developmental delay
6870711
7028891
158181
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
brandler_18_ASD_discovery_controls-controlSSC11887
N/A
M
Control
Control from SSC_phase1 cohort
10021823
10105767
83945
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036010742_
N/A
N/A
Control
No previous psychiatric history
8409227
8537686
128460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036020915_
N/A
N/A
Control
No previous psychiatric history
6865482
7028228
162747
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB296089_1007852899
N/A
N/A
Control
No previous psychiatric history
7747807
7801411
53605
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB299206_1007842052
N/A
N/A
Control
No previous psychiatric history
6607304
6645341
38038
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB338597_1007875253
N/A
N/A
Control
No previous psychiatric history
6855071
6964661
109591
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB392747_1007873163
N/A
N/A
Control
No previous psychiatric history
6605448
6639091
33644
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB532470_1007875811
N/A
N/A
Control
No previous psychiatric history
8594858
8698055
103198
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB549441_1007854309
N/A
N/A
Control
No previous psychiatric history
6931897
6998404
66508
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB616228_1007853931
N/A
N/A
Control
No previous psychiatric history
6949092
7000339
51248
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB720938_1007873459
N/A
N/A
Control
No previous psychiatric history
6607304
6639091
31788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB843802_1007872268
N/A
N/A
Control
No previous psychiatric history
8635267
8724825
89559
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB872387_1007853866
N/A
N/A
Control
No previous psychiatric history
6607304
6639091
31788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB917455_1007854021
N/A
N/A
Control
No previous psychiatric history
8547080
8661290
114211
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB919984_1007853889
N/A
N/A
Control
No previous psychiatric history
8906146
8955253
49108
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB919984_1007853889
N/A
N/A
Control
No previous psychiatric history
8795610
8860637
65028
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900094_900094
N/A
N/A
Control
No previous psychiatric history
6607304
6639091
31788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900104_900104
N/A
N/A
Control
No previous psychiatric history
6608708
6639091
30384
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900213_900213
N/A
N/A
Control
No previous psychiatric history
6607304
6639091
31788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900276_900276
N/A
N/A
Control
No previous psychiatric history
8445407
8554853
109447
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900761_900761
N/A
N/A
Control
No previous psychiatric history
6820627
6877241
56615
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900913_900913
N/A
N/A
Control
No previous psychiatric history
7275637
7499721
224085
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901030_901030
N/A
N/A
Control
No previous psychiatric history
9108113
9160304
52192
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
N/A
N/A
Control
No previous psychiatric history
7865053
7927526
62474
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
N/A
N/A
Control
No previous psychiatric history
8724825
8827024
102200
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
N/A
N/A
Control
No previous psychiatric history
9098742
9148663
49922
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902529_902529
N/A
N/A
Control
No previous psychiatric history
6607850
6639091
31242
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902580_902580
N/A
N/A
Control
No previous psychiatric history
6723463
6890632
167170
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902683_902683
N/A
N/A
Control
No previous psychiatric history
6607304
6639091
31788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902843_902843
N/A
N/A
Control
No previous psychiatric history
7674703
7770883
96181
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902862_902862
N/A
N/A
Control
No previous psychiatric history
8540871
8856561
315691
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control13327.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13327. SRS score of 45.
8628729
8903402
274674
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control13234.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
8746000
8859328
113329
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13327.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
8772779
8903402
130624
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13327.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
8628729
8646143
17415
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0005
43 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
6638298
6813605
175308
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1897
52 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
6589027
6708633
119607
GRCh38
Deletion
N/A
levy_11_ASD_discovery_controls-11231.s1
NA
F
Control
NA
NA
8734350
8795194
60845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
8424975
8482254
57280
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
7988854
7994971
6118
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11383.s1
5.5
M
Control (matched sibling)
NA
NA
6332433
6387114
54682
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11537.s1
10.3
F
Control (matched sibling)
NA
NA
9183738
9201680
17943
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11580.s1
11.8
M
Control (matched sibling)
NA
NA
7741187
8002842
261656
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11818.s1
14.3
F
Control (matched sibling)
NA
NA
8628195
8649370
21176
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
7747807
7750224
2418
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
8528343
8548167
19825
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11922.s1
13.4
M
Control (matched sibling)
NA
NA
6607304
6633074
25771
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
8690609
8728122
37514
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
8639214
8649370
10157
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
6712207
6752434
40228
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
7596756
7598443
1688
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12653.s1
8.5
F
Control (matched sibling)
NA
NA
7596756
7598266
1511
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12679.s1
0
M
Control (matched sibling)
NA
NA
6893329
6924618
31290
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12937.s1
18.9
M
Control (matched sibling)
NA
NA
6730568
6811056
80489
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
6444911
6448713
3803
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13303.s1
17.5
M
Control (matched sibling)
NA
NA
6639091
6911783
272693
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13327.s1
10.3
F
Control (matched sibling)
NA
NA
8771962
8882758
110797
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
calderoni_20_ASD_discovery_cases-caseP3
qPCR
De novo
RPL21P119,LINC01177,RNA5SP403,RNA5SP404,IMPDH1P11,RN7SL493P,C16orf72,LINC02177,LINC01195,USP7,GRIN2A
celestino-soper_11_ASD_discovery_cases-11168
Solid phase hybridization (Illumina 1M SNP), qPCR
De novo
Simplex
NA
PMM2,CARHSP1,C16orf72,USP7
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
USP7
cucinotta_23_ASD_discovery_cases-case246
Paternal
ATF7IP2,GRIN2A,IMPDH1P11,RN7SL493P
digregorio_17_DD/ID_discovery_cases-DECIPHER_300672
Unknown
PMM2,CARHSP1,ABAT,TMEM186,USP7
engchuan_15_ASD_discovery_cases-case1208_3
Unknown
RPL21P119,C16orf72
engchuan_15_ASD_discovery_cases-case14146_2440
Unknown
RNU6-328P,RBFOX1
engchuan_15_ASD_discovery_cases-case14158_2580
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case14229_3630
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case14325_4390
Unknown
engchuan_15_ASD_discovery_cases-case14330_4440
Unknown
RNU6-457P,RBFOX1
engchuan_15_ASD_discovery_cases-case14334_4480
Unknown
engchuan_15_ASD_discovery_cases-case16041_1571054001
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case16075_1571044001
Unknown
RNA5SP403,RNA5SP404
engchuan_15_ASD_discovery_cases-case18100_302
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case3095_3
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case3097_4
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case3169_4
Unknown
LINC02152,TMEM114
engchuan_15_ASD_discovery_cases-case3318_3
Unknown
METTL22,RN7SL743P,ABAT
engchuan_15_ASD_discovery_cases-case3395_4
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case3518_3
Unknown
engchuan_15_ASD_discovery_cases-case3621_4
Unknown
RNU6-457P,RBFOX1
engchuan_15_ASD_discovery_cases-case4182_1
Unknown
RNU6-457P,RBFOX1
engchuan_15_ASD_discovery_cases-case4210_1
Unknown
RNU7-99P,RNU6-457P,RNU6-328P,RBFOX1
engchuan_15_ASD_discovery_cases-case4305_1
Unknown
RNU6-328P,RBFOX1
engchuan_15_ASD_discovery_cases-case4418_1
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case4461_1
Unknown
RNU6-457P,RBFOX1
engchuan_15_ASD_discovery_cases-case4518_1
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case4525_1
Unknown
TMEM114
engchuan_15_ASD_discovery_cases-case4532_1
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case4541_1
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case5208_3
Unknown
RNU7-63P,METTL22,RN7SL743P,ABAT
engchuan_15_ASD_discovery_cases-case5244_3
Unknown
RNU6-457P,RBFOX1
engchuan_15_ASD_discovery_cases-case5451_3
Unknown
engchuan_15_ASD_discovery_cases-case6264_3
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case6317_5
Unknown
RNU6-457P,RBFOX1
engchuan_15_ASD_discovery_cases-case6408_3
Unknown
RBFOX1
engchuan_15_ASD_discovery_cases-case8433_202
Unknown
engchuan_15_ASD_discovery_cases-case8433_202
Unknown
RNU7-63P,RN7SL743P,PMM2,CARHSP1,ABAT,TMEM186,USP7
engchuan_15_ASD_discovery_cases-case8506_201
Unknown
engchuan_15_ASD_discovery_cases-case8567_201
Unknown
TMEM114
gai_11_ASD_discovery_cases-AU1254301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1254302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1344301
qPCR
Inherited
GRIN2A (intronic)
gai_11_ASD_discovery_cases-AU1344302
qPCR
Inherited
GRIN2A (intronic)
gai_11_ASD_discovery_cases-AU1393301
Inherited
RBFOX1
gai_11_ASD_discovery_cases-AU1393303
Inherited
RBFOX1
gai_11_ASD_discovery_cases-AU1393306
Inherited
RBFOX1
gai_11_ASD_discovery_cases-AU1459302
Inherited
RBFOX1 (intronic)
gai_11_ASD_discovery_cases-AU1544304
Inherited
0 genes
gai_11_ASD_replication_cases-AU015903
Inherited
RBFOX1 (intronic)
gai_11_ASD_replication_cases-AU016803
Inherited
RBFOX1 (intronic)
gai_11_ASD_replication_cases-AU031004
Inherited
PMM2, CARHSP1
gai_11_ASD_replication_cases-AU038304
Inherited
RBFOX1 (intronic)
girirajan_13a_ASD_discovery_cases-11464.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RBFOX1
girirajan_13a_ASD_discovery_cases-11551.p1
Unknown
Simplex
Unknown
RPL21P119,PMM2,CARHSP1,C16orf72,ABAT,TMEM186,USP7
girirajan_13a_ASD_discovery_cases-12265.p1
Unknown
Simplex
Unknown
RNU7-63P,RN7SL743P,PMM2,CARHSP1,ABAT,TMEM186,USP7
girirajan_13a_ASD_discovery_cases-13414.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RBFOX1
girirajan_13a_ASD_discovery_cases-13861.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RBFOX1
girirajan_13a_ASD_discovery_cases-14073.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RBFOX1
girirajan_13a_ASD_discovery_cases-AU015903
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
RBFOX1
girirajan_13a_ASD_discovery_cases-AU1393301
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
RNU6-328P,RBFOX1
griswold_12_ASD_discovery_cases-case17855
qPCR
Paternal
Simplex
Not segregated
RNU6-328P,RBFOX1
griswold_12_ASD_discovery_cases-case37350
qPCR
Maternal
Simplex, possibly multiplex (sibling with questionable ASD diagnosis)
Not segregated with confirmed ASD (sibling with questionable ASD diagnosis has CNV)
RNU6-328P,RBFOX1
griswold_12_ASD_discovery_cases-case7636
qPCR
Paternal
Multiplex
Segregated
RNU6-328P,RBFOX1
griswold_12_ASD_discovery_cases-case7851
qPCR
Paternal
Simplex
Segregated
RNU6-328P,RBFOX1
han_22_ASD/DD/ID_discovery_cases-case15D1307
Unknown
C16orf72,RPL21P119,USP7-AS1,USP7
han_22_ASD/DD/ID_discovery_cases-case18D091
Unknown
PMM2,LITAFD,USP7-AS1,USP7,CARHSP1-DT,CARHSP1
han_22_ASD/DD/ID_discovery_cases-caseY92
Paternal
GRIN2A,IMPDH1P11,RN7SL493P
hao_15_ASD/DD/ID_discovery_cases-subject2
CNV validation status N/A
De novo
CARHSP1,USP7
hao_15_ASD/DD/ID_discovery_cases-subject5
CNV validation status N/A
De novo
C16orf72,USP7
hao_15_ASD/DD/ID_discovery_cases-subject7
CNV validation status N/A
De novo
PMM2,CARHSP1,ABAT,TMEM186,USP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000121
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-99P,RNU6-457P,RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001102
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PMM2,CARHSP1,ABAT,TMEM186,USP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001963
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PMM2,CARHSP1,C16orf72,USP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002292
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU7-63P,TMEM114,METTL22,RN7SL743P,PMM2,CARHSP1,ABAT,TMEM186,USP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002306
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-99P,RNU6-457P,RNU6-328P,RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002429
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002456
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU7-99P,RNU6-457P,RNU6-328P,RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002464
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002635
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-99P,RNU6-457P,RNU6-328P,RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002661
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-99P,RNU6-457P,RNU6-328P,RBFOX1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004321
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PMM2,CARHSP1,ABAT,TMEM186,USP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004397
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PMM2,CARHSP1,C16orf72,ABAT,TMEM186,USP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004409
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU7-63P,RPL21P119,LINC01177,RN7SL743P,PMM2,CARHSP1,C16orf72,LINC02177,LINC01195,ABAT,TMEM186,USP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004550
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-457P,RNU6-328P,RBFOX1
kanduri_15_ASD_discovery_cases-case2964
Maternal
Unknown
Unknown
MIR7641-2 (non-coding RNA, exonic)
kousoulidou_13_ASD_discovery_cases-patient10
qPCR
Paternal
Unknown
Unknown
ABAT
krumm_13_ASD_discovery_cases-case13327.p1
Maternal
Simplex
Not segregated
METTL22
krumm_15_ASD_discovery_cases-case11551.p1
Illumina 1M
De novo
Simplex
Segregated
PMM2,CARHSP1,C16orf72,ABAT,TMEM186,USP7
krumm_15_ASD_discovery_cases-case12265.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PMM2,CARHSP1,ABAT,TMEM186,USP7
krumm_15_ASD_discovery_cases-case13327.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PMM2,CARHSP1,ABAT,TMEM186,USP7
krumm_15_ASD_discovery_cases-case13327.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
METTL22
kushima_18_ASD_discovery_cases-caseASD0976
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
RBFOX1
kushima_18_ASD_discovery_cases-caseASD1001
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
RBFOX1
kushima_18_SCZ_discovery_cases-caseSCZ0076
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
RBFOX1
kushima_18_SCZ_discovery_cases-caseSCZ0613
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
RNU7-99P,RNU6-457P,RNU6-328P,RBFOX1
kushima_18_SCZ_discovery_cases-caseSCZ1786
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
RBFOX1
kushima_18_SCZ_discovery_cases-caseSCZ2138
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
RNU6-457P,RBFOX1
kushima_18_SCZ_discovery_cases-caseSCZ2452
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
RNU7-99P,RNU6-457P,RBFOX1
kushima_18_SCZ_discovery_cases-caseSCZ2653
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
RBFOX1
laffin_12_CAS_discovery_cases-case4
Unknown
Simplex
Unknown
RNU7-63P,PMM2,ABAT,TMEM186
laffin_12_CAS_discovery_cases-case6
Unknown
Simplex
Unknown
PMM2,CARHSP1,ABAT,TMEM186,USP7
lesca_12_EP_discovery_cases-caseEA85
qPCR
De novo
Unknown
Possibly segregated
RN7SL493P,GRIN2A
levy_11_ASD_discovery_cases-11071.p1
Paternal
Simplex
Possibly segregated
RPL21P119,C16orf72,USP7
levy_11_ASD_discovery_cases-11168.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
PMM2,CARHSP1,C16orf72,USP7
levy_11_ASD_discovery_cases-11231.p1
Paternal
Simplex
Not segregated
PMM2,ABAT,TMEM186
levy_11_ASD_discovery_cases-11551.p1
De novo
Simplex
Segregated
RPL21P119,PMM2,CARHSP1,C16orf72,ABAT,TMEM186,USP7
levy_11_ASD_discovery_cases-12265.p1
Maternal
Simplex
Possibly segregated
RNU7-63P,METTL22,RN7SL743P,PMM2,CARHSP1,ABAT,TMEM186,USP7
maini_18_ASD/DD/ID_discovery_cases-case154
Maternal
Not simplex
Unknown
PMM2,ABAT,TMEM186
marshall_08_ASD_discovery_cases-SK0266-003
qPCR, qmPCR
Unknown
NA
NA
RNU6-457P,RBFOX1
mikhail_11_DD/ID_discovery_cases-patient4
FISH
Unknown
Unknown
Unknown
RNU7-99P,RNU6-457P,RBFOX1
mosca_16_DCD_discovery_cases-case107103
qPCR
Paternal
Simplex
Unknown
PMM2,CARHSP1,ABAT,TMEM186
nava_13_ASD_discovery_cases-Fam1091Proband10781
Maternal, present in affected brother
Multiplex
Segregated
RNU7-63P,PMM2,CARHSP1,ABAT,TMEM186,USP7
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250971
Unknown
Unknown
Unknown
RPL21P119,PMM2,CARHSP1,C16orf72,LINC02177,ABAT,TMEM186,USP7
pinto_10_ASD_discovery_cases-case5208_3
qPCR-Paternal,Agilent1M
paternal
Multiplex
Not segregated
RNU7-63P,METTL22,RN7SL743P,ABAT
pinto_14_ASD_discovery_cases2-case4182_1
qPCR (Griswold et al. 2011, PMID: 21360829)
Paternal
Simplex (identical twin with ASD)
Unknown (not tested)
RNU6-328P,RBFOX1
pinto_14_ASD_discovery_cases2-case4210_1
qPCR (Griswold et al. 2011, PMID: 21360829)
Paternal
Simplex
(not tested)
RNU6-328P,RBFOX1
pinto_14_ASD_discovery_cases2-case4461_1
qPCR (Griswold et al. 2011, PMID: 21360829)
Maternal
Multiplex
(not tested)
RNU6-328P,RBFOX1
pinto_14_ASD_discovery_cases2-case4518_1
qPCR (Griswold et al. 2011, PMID: 21360829)
Paternal
Simplex
(not tested)
RNU6-328P,RBFOX1
poultney_13_ASD_discovery_cases-case03HI2424A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
METTL22
prasad_12_ASD_discovery_cases-case107204L
Unknown
Unknown
Unknown
RBFOX1
prasad_12_ASD_discovery_cases-case44307
Unknown
Unknown
Unknown
RBFOX1
prasad_12_ASD_discovery_cases-case68257
Unknown
Unknown
Unknown
RBFOX1
prasad_12_ASD_discovery_cases-case76286
Unknown
Unknown
Unknown
METTL22,ABAT
quintela_17_DD/ID_discovery_cases-caseID_258
Unknown
Unknown
RPL21P119
roberts_13_ASD/DD/ID_discovery_cases-ASDcase11
BACs aCGH or FISH
Unknown
Unknown
Unknown
RBFOX1
sanders_11_ASD_discovery_cases-11071.p1
Paternal
Simplex (quad-proband matched)
Segregated
RPL21P119,C16orf72,USP7
sanders_11_ASD_discovery_cases-11168.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
PMM2,CARHSP1,C16orf72,USP7
sanders_11_ASD_discovery_cases-11266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11349.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11352.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU7-99P,RBFOX1
sanders_11_ASD_discovery_cases-11383.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-11387.p1
Maternal
Simplex (trio)
NA
RBFOX1
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
RBFOX1
sanders_11_ASD_discovery_cases-11521.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-11551.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
RPL21P119,PMM2,CARHSP1,C16orf72,ABAT,TMEM186,USP7
sanders_11_ASD_discovery_cases-11718.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-11818.p1
Both parents
Simplex (quad-proband matched)
Segregated
METTL22
sanders_11_ASD_discovery_cases-11834.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01195
sanders_11_ASD_discovery_cases-11922.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-11931.p1
Unknown
Simplex (trio)
NA
RBFOX1
sanders_11_ASD_discovery_cases-12102.p1
Paternal
Simplex (trio)
NA
METTL22
sanders_11_ASD_discovery_cases-12106.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU7-63P,RN7SL743P,ABAT
sanders_11_ASD_discovery_cases-12235.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-12261.p1
Unknown
Simplex (quad-proband matched)
Not segregated
METTL22
sanders_11_ASD_discovery_cases-12279.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
RBFOX1
sanders_11_ASD_discovery_cases-12572.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-12613.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-12617.p1
Paternal
Simplex (quad-proband matched)
Not segregated
METTL22
sanders_11_ASD_discovery_cases-12701.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-12764.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-13076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RBFOX1
sanders_11_ASD_discovery_cases-13327.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PMM2,CARHSP1,ABAT,TMEM186,USP7
sanders_11_ASD_discovery_cases-13327.p1
Maternal
Simplex (quad-proband matched)
Not segregated
METTL22,RN7SL743P,ABAT
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC01
FISH or qRT-PCR
De novo
C16orf72,GRIN2A,RPL21P119,RNA5SP404,LINC02177,LITAFD,LINC01177,LINC01195,USP7-AS1,RNA5SP403,USP7
shen_10_ASD_discovery_cases-ASD-09-071
Unknown
NA
NA
RNU7-99P,RNU6-457P,RNU6-328P,RBFOX1
sherman_21_ASD_discovery_cases-SPARK_SP0012573
ABAT,C16orf72,RPL21P119,PMM2,LITAFD,USP7,TMEM186,CARHSP1
szatmari_07_ASD_discovery_cases-NAAR029-C8-3169.004
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
LINC02152
wintle_10_ASD_discovery_cases-AN13872
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
RNU6-328P,RBFOX1
xu_16_ASD/DD/ID_discovery_cases-case37
Unknown (not maternal)
RPL21P119,PMM2,CARHSP1,C16orf72,ABAT,TMEM186,USP7
yin_16_ASD_discovery_cases-case492
Unknown
Unknown
Unknown
METTL22,RN7SL743P,ABAT
yin_16_ASD_discovery_cases-case493
Unknown
Unknown
Unknown
PMM2,CARHSP1,ABAT,TMEM186,USP7
yin_16_ASD_discovery_cases-case494
Unknown
Unknown
Unknown
PMM2,CARHSP1,ABAT,TMEM186,USP7
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1525-003
RT-qPCR or WGS
De novo
LITAFD,PMM2,CARHSP1,C16orf72,USP7
null
zhao_13_DD/ID/ASD/EP_discovery_cases-case10
qPCR
Unknown
Unknown
Unknown
RNU6-328P,RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case11
qPCR
Unknown
Unknown
Unknown
RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case12
qPCR
Unknown
Unknown
Unknown
RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case13
qPCR
Unknown
Unknown
Unknown
RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case14
qPCR
Unknown
Unknown
Unknown
RNU7-99P,RNU6-457P,RNU6-328P,RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case2
qPCR
Unknown
Unknown
Unknown
RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case3
qPCR
Unknown
Unknown
Unknown
RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case4
qPCR
Unknown
Unknown
Unknown
RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case5
qPCR
Maternal
Unknown
Unknown
RNU7-99P,RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case6
qPCR
De novo
Unknown
Unknown
RNU6-457P,RNU6-328P,RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case7
qPCR
Unknown
Unknown
Unknown
RNU6-457P,RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case8
qPCR
Unknown
Unknown
Unknown
RNU6-457P,RBFOX1
zhao_13_DD/ID/ASD/EP_discovery_cases-case9
qPCR
Unknown
Unknown
Unknown
RNU6-457P,RNU6-328P,RBFOX1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC11887
PCR or SNP data validation
Paternal
GRIN2A
engchuan_15_ASD_discovery_controls-control110036010742_
Unknown
TMEM114
engchuan_15_ASD_discovery_controls-control110036020915_
Unknown
RNU6-457P,RNU6-328P,RBFOX1
engchuan_15_ASD_discovery_controls-controlB296089_1007852899
Unknown
engchuan_15_ASD_discovery_controls-controlB299206_1007842052
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlB338597_1007875253
Unknown
RNU6-457P,RBFOX1
engchuan_15_ASD_discovery_controls-controlB392747_1007873163
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlB532470_1007875811
Unknown
METTL22,RN7SL743P,ABAT
engchuan_15_ASD_discovery_controls-controlB549441_1007854309
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlB616228_1007853931
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlB720938_1007873459
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlB843802_1007872268
Unknown
RNU7-63P,METTL22,RN7SL743P,ABAT
engchuan_15_ASD_discovery_controls-controlB872387_1007853866
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlB917455_1007854021
Unknown
TMEM114,METTL22
engchuan_15_ASD_discovery_controls-controlB919984_1007853889
Unknown
USP7
engchuan_15_ASD_discovery_controls-controlB919984_1007853889
Unknown
PMM2,CARHSP1,TMEM186
engchuan_15_ASD_discovery_controls-controlHABC_900094_900094
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_900104_900104
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_900213_900213
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_900276_900276
Unknown
TMEM114
engchuan_15_ASD_discovery_controls-controlHABC_900761_900761
Unknown
RNU6-457P,RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_900913_900913
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_901030_901030
Unknown
RPL21P119,C16orf72
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
Unknown
PMM2,ABAT,TMEM186
engchuan_15_ASD_discovery_controls-controlHABC_902501_902501
Unknown
C16orf72
engchuan_15_ASD_discovery_controls-controlHABC_902529_902529
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_902580_902580
Unknown
RNU7-99P,RNU6-457P,RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_902683_902683
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_902843_902843
Unknown
RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_902862_902862
Unknown
RNU7-63P,TMEM114,METTL22,RN7SL743P,PMM2,CARHSP1,ABAT,TMEM186
krumm_13_ASD_discovery_controls-control13327.s1
Maternal
Simplex
RNU7-63P,METTL22,RN7SL743P,PMM2,CARHSP1,ABAT,TMEM186,USP7
krumm_15_ASD_discovery_controls-control13234.s1
1M-Duov3
Paternal
PMM2,CARHSP1,ABAT,TMEM186
krumm_15_ASD_discovery_controls-control13327.s1
Illumina 1MDuo
Maternal
PMM2,CARHSP1,ABAT,TMEM186,USP7
krumm_15_ASD_discovery_controls-control13327.s1
Illumina 1MDuo
Maternal
METTL22
kushima_18_ASD/SCZ_discovery_controls-controlCON0005
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
RNU7-99P,RBFOX1
kushima_18_ASD/SCZ_discovery_controls-controlCON1897
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
RBFOX1
levy_11_ASD_discovery_controls-11231.s1
Paternal
Simplex
NA
PMM2,ABAT,TMEM186
sanders_11_ASD_discovery_controls-11266.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11349.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11383.s1
Paternal
Simplex (quad)
NA
RBFOX1
sanders_11_ASD_discovery_controls-11537.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11580.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11818.s1
Maternal
Simplex (quad)
NA
METTL22
sanders_11_ASD_discovery_controls-11905.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11918.s1
Paternal
Simplex (quad)
NA
TMEM114
sanders_11_ASD_discovery_controls-11922.s1
Paternal
Simplex (quad)
NA
RBFOX1
sanders_11_ASD_discovery_controls-12106.s1
Maternal
Simplex (quad)
NA
RNU7-63P,ABAT
sanders_11_ASD_discovery_controls-12261.s1
Unknown
Simplex (quad)
NA
METTL22
sanders_11_ASD_discovery_controls-12435.s1
Maternal
Simplex (quad)
NA
RNU7-99P,RBFOX1
sanders_11_ASD_discovery_controls-12572.s1
Both parents
Simplex (quad)
NA
RBFOX1
sanders_11_ASD_discovery_controls-12653.s1
Unknown
Simplex (quad)
NA
RBFOX1
sanders_11_ASD_discovery_controls-12679.s1
Maternal
Simplex (quad)
NA
RBFOX1
sanders_11_ASD_discovery_controls-12937.s1
Paternal
Simplex (quad)
NA
RNU7-99P,RBFOX1
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
RBFOX1
sanders_11_ASD_discovery_controls-13303.s1
Paternal
Simplex (quad)
NA
RNU7-99P,RNU6-457P,RBFOX1
sanders_11_ASD_discovery_controls-13327.s1
Maternal
Simplex (quad)
NA
PMM2,CARHSP1,ABAT,TMEM186
No Animal Model Data Available