4q35.2CNV Type: Deletion-Duplication
Largest CNV size: 1923434 bp
Statistics Box:
Number of Reports: 50
Number of Reports: 50
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion-Duplication
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Duplication
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Contribution of SHANK3 mutations to autism spectrum disorder.
Duplication
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
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.
Duplication
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
Duplication
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Duplication
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Duplication
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
1330326
1
0
1
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
203712
0
4
4
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
261000
1
1
2
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
Unrelated Tourette syndrome (TS) patients recruited through the Herlev Tourette Clinic (Denmark)
188
Tourette syndrome (TS) with additional comorbidities, including ADHD, OCD, and ASD
N/A
81.91% Male
1700000
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
21853
0
1
1
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
3600000
1
0
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
130088
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
3100000
0
2
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1164636
4
23
27
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Range, 4-9 yrs.
33.33% Male
262806
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
478655
0
1
1
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
1137603
0
1
1
gilling_08_ASD_discovery_cases
38-year-old Danish female with childhood autism & high-grade myopia
1
ASD. Diagnosis of childhood autism (as defined in ICD-10) based on ADOS (module 4) & ADI-R.
38 yrs.
Female
1200000
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
540554
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1102000
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
441820
0
2
2
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
1004064
1
0
1
hanchard_12_ASD_discovery_cases
Affected female consultand from a pedigree with ASDs, epilepsy, and cognitive processing problems
1
Formal autism evaluation using Gilliam Autism Rating scales (GARS) consistent with diagnosis of PDD-NOS. Additional diagnoses of ADHD and epilepsy.
6 yrs.
Female
194000
0
1
1
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
503701
1
0
1
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
3855689
0
1
1
hernando-davalillo_22_ASD/DD_discovery_cases
Third of three children born to healthy non-consanguineous Spanish parents with a de novo 1.13 Mb 4q35.2 duplication encompassing the FAT1 gene.
1
Case diagnosed with ASD following assessment by ADI-R and ADOS and also presented with developmental delay (severe language delay).
7 yrs.
Female
1137204
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2694855
9
8
17
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
283757
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
283757
0
2
2
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
278288
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
2400000
0
2
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
280265
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
294000
2
1
3
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
1923434
0
5
5
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
1484643
1
0
1
moessner_07_ASD_discovery_cases
Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
400
ASD
286000
0
2
2
moreira_14_ASD/EP_discovery_cases
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
531
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
N/A
N/A
203000
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
477000
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
460510
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
1190000
1
0
1
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)
144569
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
1942051
3
3
6
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
1200000
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
1051491
0
4
4
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
0
4
4
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
655691
17
10
27
schuch_19_ASD_discovery_cases
Childen of European descent diagnosed with idiopathic ASD
40
Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
Mean, 7.83 2.95 yrs.
90.00% Male
2137000
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)
1120000
1
0
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
183000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
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
1283000
14
6
20
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
479604
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
68550
1
0
1
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
1559000
1
0
1
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
2368993
0
1
1
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
376335
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
145614
0
1
1
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
89000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
233791
0
1
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
1615876
8
23
31
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
1316511
2
0
2
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
NA
NA
NA
NA
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
561877
1
0
1
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
50312
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
75632
0
3
3
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
278288
0
1
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
2400000
0
3
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
60030
2
1
3
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)
144569
0
5
5
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)
1942051
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.
800896
17
10
27
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
68550
N/A
N/A
N/A
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
1559000
1
1
2
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
145614
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
Danish
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan HD
Affymetrix ChAS
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
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
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gilling_08_ASD_discovery_cases
Danish
aCGH
BACs aCGH (Whole-genome 32K BAC array)
FISH
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
hanchard_12_ASD_discovery_cases
Caucasian
aCGH
Custom Agilent 4X44K microarray
None
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hernando-davalillo_22_ASD/DD_discovery_cases
Spain
aCGH
qGenomics qChip CM whole-genome 60K
NA
NA
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
moessner_07_ASD_discovery_cases
Array SNP
Affymetrix 500K
moreira_14_ASD/EP_discovery_cases
Ethnically-mixed Brazilian
Array SNP
Various Affymetrix platforms
None
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
FISH
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
schuch_19_ASD_discovery_cases
European
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
None
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case3C
8 yrs.
ASD
Autism
188705993
190036318
1330326
GRCh38
Deletion
No
alayadhi_16_ASD_discovery_cases-caseAUT2-1
N/A
M
Autism
CARS score of 35.5; Social Responsiveness Scale (SRS) score of 74; Sensory profile score of 139.
186009036
186212747
203712
GRCh38
Duplication
Yes
alayadhi_16_ASD_discovery_cases-caseAUT2-2
N/A
M
Autism
CARS score of 36.0; Social Responsiveness Scale (SRS) score of 76; Sensory profile score of 140.
186009036
186212747
203712
GRCh38
Duplication
Yes
alayadhi_16_ASD_discovery_cases-caseAUT9-1
N/A
M
Autism
CARS score of 28.5; Social Responsiveness Scale (SRS) score of 72; Sensory profile score N/A.
186009036
186212747
203712
GRCh38
Duplication
Yes
alayadhi_16_ASD_discovery_cases-caseAUT9-2
N/A
M
Autism
CARS score of 35.5; Social Responsiveness Scale (SRS) score of 73; Sensory profile score of 185.
186009036
186212747
203712
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case39
7 yrs. 10 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
186410372
186609012
198641
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case60
12 yrs. 4 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
188326548
188587246
260699
GRCh38
Deletion
Yes
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient4
N/A
M
Tourette syndrome and OCD
Symptoms: TS, OCD. Family history: father with obsessive-compulsive behavior and stuttering; unaffected mother.
N/A
187182882
188874118
1691237
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11030
NA
M
ASD
NA
NA
189941375
189963228
21854
GRCh38
Duplication
No
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1055
N/A
F
Developmental delay
Mild developmental delay, blepharophimosis, dysmorphic features. Family history: none reported.
Mild developmental delay
186187749
189800953
3613205
GRCh38
Deletion
Yes
costa_21_ASD_discovery_cases-caseP143
NA
F
ASD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: NA.
186533256
186663343
130088
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296369
N/A
F
Developmental delay/intellectual disability
186834304
189975519
3141216
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300747
N/A
F
Developmental delay/intellectual disability
188326519
188536843
210325
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case13082_963
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187540004
188335644
795641
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13204_883
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
186618169
186926921
308753
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13204_883
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187396227
187913021
516795
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13204_883
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
186440148
186516161
76014
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14221_3550
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
189316823
189396324
79502
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14389_4980
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
186490143
186678291
188149
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14389_4980
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188495529
188755696
260168
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16033_1571008001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
189397558
190097105
699548
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20052_1277001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188412506
188467443
54938
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20052_1277001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188308062
188374878
66817
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2290_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188222321
188467443
245123
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3053_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188908748
188940399
31652
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3072_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188381942
189546578
1164637
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3072_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
189764149
189835327
71179
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3079_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
189310262
189390782
80521
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3437_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
189749385
189866505
117121
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3505_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188576910
188695547
118638
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3505_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187994830
188207182
212353
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3615_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188212053
188679559
467507
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3618_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
189010942
189472970
462029
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3618_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188394744
188467443
72700
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4022_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187540004
188671776
1131773
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4273_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
189819175
190026422
207248
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4324_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
189850194
189974231
124038
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5351_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187284685
187513523
228839
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5351_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
186335850
186613221
277372
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5532_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
189757518
189795030
37513
GRCh38
Duplication
No
fan_18_DD/ID_discovery_cases-subject1
4 yrs.
M
Developmental delay/intellectual disability and autistic features
Developmental milestones: moderately delayed gross motor skill development, severely delayed fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: absent speech (language ability equivalent to 6 months). Behavioral/psychiatric evaluation: autistic behaviors. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height normal, weight 90th-97th %ile, head circumference +1 SD ~ +2 SD.
Severe intellectual disability
187267528
187530334
262807
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1067302
Autism
190631118
191109772
478655
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU020604
Autism
188700105
189837707
1137603
Unknown
Duplication
No
gilling_08_ASD_discovery_cases-case1
38 yrs.
F
ASD
Diagnosis of childhood autism (as defined in ICD-10) based on ADOS (module 4) & ADI-R by age 34 yrs. ADOS test results: communication, 7 (autism cutoff 3); qualitative impairment of reciprocal social interaction, 7 (autism cutoff 6); total score, 14 (autism cut-off 10). ADI-R test results: qualitative impairment in reciprocal social interaction, 27 (autism cut-off 10); communication, 18 (autism cut-off 8); restricted & repetitive behavior, 9 (autism cut-off 3). Developmental milestones: sat at 9 mos., walked unaided at 17 mos., first words & sentences at 42 mos. Delayed psychomotor & language development. Behavioral difficulties. Previously diagnosed with childhood autism at 3 yrs. of age; attended school for autistic children until 18 yrs., then moved to an institution for autistic adults. Mild cerebral palsy. Hyperflexible joints. High-grade mypoia (12 dioptres, right eye; -11 dioptres, left eye). Hypersensitivity to sounds. No dysmorphic features. Family history: mother & father healthy; younger sister phenotypically normal
Wechsler Adult Intelligence Scale-Revised (WAIS-R) IQ scores: verbal IQ, 78; performance IQ, 105; full IQ, 88.
186351697
187618697
1267001
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si199
9
M
Autism
ADOS score: 6. Vineland composite score: NA.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 101; Non-verbal IQ, 109.
189325872
189866425
540554
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU020604
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
187551852
188651852
1100001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-31008110295
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
189595744
190037563
441820
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-63104102826
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
187544768
187947964
403197
GRCh38
Duplication
No
guo_17_ASD_discovery_cases-caseM11400
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
188525088
189529151
1004064
GRCh38
Deletion
Yes
hanchard_12_ASD_discovery_cases-case1
6 yrs.
F
PDD-NOS
Formal autism evaluation using Gilliam Autism Rating scales (GARS) consistent with diagnosis of PDD-NOS. Developmental milestones: presented at 3 years 10 months after mild delays in fine and gross motor development, with loss of speech and significant behavioral problems including ADHD and aggression. Also had hyperacusis, sensitivity to textures, and poor eye contact. Language and communication evaluation: limited vocabulary with difficulties in speech articulation at 6 years of age. Epilepsy/seizures: developed focal onset seizures and was diagnosed with epilepsy; at 6 years, seizures were medically refractory. Dysmorphic features: smooth philtrum, double ear crus, over-folded helix, bilateral 5th finger clinodactyly, talus rotation. Growth parameters: proportionally large for age (height, 75th-90th %ile; weight, 97th %ile; head circumference, 98th %ile). Family history: father (carries Xq28 duplication) with speech and cognition problems in childhood and epilepsy; mother had problems with cognitive processing and executive functioning; brother with sleep disturbances, ADHD, and ASD; maternal half-brother with sleep problems and ADHD (mother, brother, and maternal half-brother all carry 4q35.2 duplication).
Problems with cognitive processing
NA
NA
115000
NCBI36
Duplication
No
handrigan_13_ASD/DD/ID_discovery_cases-patient8
9 yrs.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay), speech delay, social awkardness. Urological abnormalities: none reported. Other features: macrocephaly, small ears, high-arched palate, hypertelorism, maxillary hypoplasia. Growth parameters: overgrowth for both weight and height.
188045269
188548970
503702
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D3272
2 yrs. 4 mos.
M
Developmental delay and intellectual disability
Speech delay
Intellectual disability
186180630
190036318
3855689
GRCh38
Duplication
No
hernando-davalillo_22_ASD/DD_discovery_cases-case1
7 yrs.
F
ASD and developmental delay
Birth/neonatal history: delivered by C-section at 39 weeks gestation; birth weight 3700 g (91st %ile), birth head circumference 34.5 cm (56th %ile); uneventful newborn period. Developmental milestones: severe language delay (syllables but no words at 3 years 4 months; two words at 3 years 9 months); sphincter control acquired at 3 years. Motor and musculoskeletal evaluation: normal muscular trophism and strength. Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder (ASD) following assessment by ADI-R and ADOS (which showed difficulties with language and communication, difficulties with reciprocal social ineraction, stereotyped behaviors, and limited interests); hypersensitivity to certain food textures (always eats crushed food), stereotypies (flapping wings, frequent clapping). Additional medical history: transient hypogammaglobulinemia, frequent vomiting due to milk protein allergy, celiac disease risk (HLA-DQ2), Blastocystis hominis infection. Dysmorphic features: none. Growth parameters: weight 22.4 kg (19th %ile), height 120.5 cm (16th %ile), head circumference 52 cm (61st %ile). Family history: third of three children born to healthy non-consanguineous Spanish parents.
186346865
187484068
1137204
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000070
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
186218358
187484068
1265711
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000633
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
189128061
189975519
847459
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
188831734
189158143
326410
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001015
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
189185703
189254661
68959
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001757
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
186550538
187284289
733752
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002430
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
188324612
189885079
1560468
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002560
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
188126577
188624331
497755
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003792
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
187889646
189975660
2086015
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003809
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
188165012
190042639
1877628
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004004
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
189111218
189975519
864302
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004192
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
187589886
188831793
1241908
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004237
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
189046895
189975660
928766
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004809
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
189111218
189975519
864302
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004907
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
187347785
190042639
2694855
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005138
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
187589886
188115140
525255
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005273
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
188115081
188624331
509251
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005436
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
186936679
187652502
715824
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12100.p1
N/A
M
ASD
ASD proband from SSC quad family 12100. SRS score of 90.
Full-scale IQ (FSIQ) score of 71.
186271608
186555365
283758
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12100.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
186271608
186555365
283758
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14374.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
188091372
188147372
56001
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case51
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
186334959
186613247
278289
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1137201
N/A
F
ASD
188923846
189476846
553001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU3510301
N/A
M
ASD
187529846
189938845
2409000
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12100.p1
NA
M
ASD
NA
NA
186271549
186551813
280265
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case152
17 yrs.
M
Language delay and language disorder
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: pes planus. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: N/A. Additional medical history: ematologic anomalies. Dysmorphic features: ears with attached earlobes. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Normal (no intellectual disability or learning disorder)
189706370
189975709
269340
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown170
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
188828781
188993073
164293
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown171
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
189254402
189548314
293913
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0019-003
NA
M
ASD
NA
NA
188876462
190009739
1133278
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-MM0109-003
NA
F
ASD
nonverbal, severe repetitive behavior, mild dysmorphism
IQ/LOF 27
188242444
188528697
286254
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0074-003
NA
M
ASD
NA
NA
186934264
188857697
1923434
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0083-003
NA
M
ASD
severe speech unintelligibility, mild repetitive behavior, severe dysmorphism
IQ/LOF 56
186935697
186957011
21315
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0112-003
NA
M
ASD
NA
NA
188284250
188931697
647448
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530928
M
Intellectual disability
Abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249).
188729913
190214555
1484643
GRCh38
Deletion
No
moessner_07_ASD_discovery_cases-case1
NA
F
ASD
Nonverbal speech, poor social interaction, repetitive behaviors
Global developmental delay
189446500
189670697
224198
GRCh38
Duplication
No
moessner_07_ASD_discovery_cases-case1
NA
F
ASD
Nonverbal speech, poor social interaction, repetitive behaviors
Global developmental delay
188242444
188528697
286254
GRCh38
Duplication
No
moreira_14_ASD/EP_discovery_cases-case4
21 yrs.
F
ASD
Language and communication evaluation: few words. Motor and musculoskeletal evaluation: restriction of extension, elbows and knees. Epilepsy/seizures: none. Other features: hyperlordosis. Dysmorphic features: epicanthus, short philtrum, thick lips. Growth parameters: height of 166 cm (50th-75th %ile), weight of 52 kg (10th-25th %ile), and head circumference of 54 cm (25th-50th %ile).
186013132
186215992
202861
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam762Proband9995
N/A
F
ASD
Additional clinical profile info N/A
ID
188361311
188838543
477233
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2436
N/A
F
Developmental delay and epilepsy
Database: Signature. Indication for study: Developmental Delay, Seizure Disorder, arr cgh 4q35(RP11-347P3,RP11-706F1,RP11-45F23)x1
189049765
189510275
460511
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3072_008
NA
M
Autism
Language delay, no epilepsy, height P97, head circumference P98, mild eczema, no other associated medical or psychiatric problems
Normal IQ
189533070
190718765
1190000
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0890A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU020604; NDAR ID NDAR_INVME872TUQ)
188002806
188147374
144569
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case170300
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
189228998
189255442
26445
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47602
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
190982221
191133722
151502
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case59640L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
189499656
190088376
588721
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case59997L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
190907560
190921241
13682
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60910L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
188088890
190030940
1942051
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case93185
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
190262120
191041681
779562
Unknown
Deletion
No
roberts_13_ASD/DD/ID_discovery_cases-ASDcase3
12 yrs.
M
ASD
ADHD, OCD, easy bruising, irregular sleep disturbances
186312913
187503485
1190573
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case13402
NA
NA
ASD
NA
NA
188225707
188492275
266568
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case17377
NA
NA
ASD
NA
NA
190207913
190668423
460510
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case21007
NA
NA
ASD
NA
NA
188225707
189277198
1051491
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case21622
NA
NA
ASD
NA
NA
189700508
189960829
260321
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
189310262
189396324
86063
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11071.p1
13.9
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
187280196
187504975
224780
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11071.p1
13.9
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
186335850
186613221
277372
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
187231483
187238487
7005
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11156.p1
13.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
189077750
189233726
155977
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11167.p1
11
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
189951623
190024323
72701
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11241.p1
12
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
189713735
190005977
292243
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11241.p1
12
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
188006668
188014508
7841
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11263.p1
13.2
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
188973799
188990073
16275
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11322.p1
4.2
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
188423608
188430114
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11398.p1
12.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
188006668
188014463
7796
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11421.p1
7.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
188266985
188699985
433001
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
186922572
186926921
4350
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11928.p1
12.6
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
188335644
188344900
9257
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11995.p1
5.4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
189764149
189795030
30882
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12030.p1
6.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
189713735
189872692
158958
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12030.p1
6.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
189901269
189982533
81265
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12051.p1
6.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
186271327
186927018
655692
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
189861718
190097105
235388
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
188335644
188344900
9257
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12361.p1
4.8
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
188335644
188344900
9257
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12865.p1
8.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
188335644
188344900
9257
GRCh38
Deletion
No
schuch_19_ASD_discovery_cases-case4
N/A
M
ASD
Autism disorder, psychomotor agitation, mood instability, repetitive movements, sleep disturbance.
186909875
189047154
2137280
GRCh38
Duplication
No
shen_10_ASD_discovery_cases-ASD-09-039
NA
M
ASD
NA
NA
184377685
185495857
1118173
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseLAS6
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
188414546
188597870
183325
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR023-D9-3046.001
NA
ASD
NA
NA
188373697
188821697
448001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR023-F9-3046.003
NA
ASD
NA
NA
188373697
188821697
448001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR024-A12-3072.008
NA
ASD
NA
NA
188511697
189794697
1283001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR024-B12-3072.009
NA
ASD
NA
NA
188511697
189794697
1283001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR024-G11-3072.006
NA
ASD
NA
NA
188511697
189794697
1283001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR027-C6-3120.003
NA
ASD
NA
NA
188006697
188013697
7001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR027-D6-3120.004
NA
ASD
NA
NA
188006697
188013697
7001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR027-E6-3120.005
NA
ASD
NA
NA
188006697
188013697
7001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR041-G10-01C05471
NA
ASD
NA
NA
188716697
189794697
1078001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR041-G7-01C05468
NA
ASD
NA
NA
188716697
189794697
1078001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR062-D4-HI0888
NA
ASD
NA
NA
188373697
188608697
235001
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR062-D5-HI0889
NA
ASD
NA
NA
187499697
188608697
1109001
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR062-D6-HI0890
NA
ASD
NA
NA
187604697
188608697
1004001
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR062-D7-HI0891
NA
ASD
NA
NA
187604697
188013697
409001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR070-H5-HI3148
NA
ASD
NA
NA
188006697
188013697
7001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR071-A5-HI3159
NA
ASD
NA
NA
188006697
188013697
7001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR071-A7-HI3161
NA
ASD
NA
NA
188006697
188013697
7001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR073-E12-04C35554
NA
ASD
NA
NA
188373697
188821697
448001
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR073-F2-04C35556
NA
ASD
NA
NA
188373697
188903697
530001
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR073-H10-04C35587
NA
ASD
NA
NA
188373697
188821697
448001
GRCh38
Duplication
Yes
tropeano_16_ASD_discovery_cases-MAAS7
30-39 yrs.
M
ASD
Case diagnosed with pervasive developmental disorder (PDD) based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.
188091272
188570876
479605
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case1-0455-003
N/A
M
ASD
N/A
N/A
189016788
189085337
68550
GRCh38
Deletion
No
wang_10_ASD_discovery_cases-AC0025
22
M
ASD
NA
NA
188766243
190005977
1239735
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case14
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: Unbalanced karyotype from complex 3-way translocation, dup of 47 Mb in 3q24q29, Del of 2.87 Mb within 4q35.2
N/A
N/A
2870000
GRCh37
Deletion
No
yap_21_ASD_discovery_cases-case2202699
NA
M
ASD, intellectual disability, and epilepsy/seizures
Sleep disturbances (CSHQ 47); history of seizures. Sibling with duplication presented with sleep disturbances (CSHQ 47) and a history of seizures
Intellectual disability (no WISC or MSEL score available)
186662004
189030996
2368993
GRCh38
Duplication
No
yingjun_17_ASD_discovery_cases-case7857
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
188086674
188463009
376336
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case213
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
188337611
188483224
145614
GRCh38
Duplication
No
zhou_19_ASD_discovery_cases-caseAU061503
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
186639672
186728696
89025
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control20022
N/A
M
Control
Control
186376078
186609868
233791
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036022796_
N/A
N/A
Control
No previous psychiatric history
187483620
189099496
1615877
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036023588_
N/A
N/A
Control
No previous psychiatric history
189003029
189357831
354803
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
N/A
N/A
Control
No previous psychiatric history
188325252
188515687
190436
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
N/A
N/A
Control
No previous psychiatric history
189308628
189631431
322804
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB456613_1007854343
N/A
N/A
Control
No previous psychiatric history
189436307
189545969
109663
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
N/A
N/A
Control
No previous psychiatric history
188188131
188589315
401185
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
N/A
N/A
Control
No previous psychiatric history
188785650
189230229
444580
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB534543_1007874558
N/A
N/A
Control
No previous psychiatric history
188898596
189036956
138361
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB537495_1007853968
N/A
N/A
Control
No previous psychiatric history
187950648
188180619
229972
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB621960_1007854303
N/A
N/A
Control
No previous psychiatric history
189003029
189357831
354803
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB621960_1007854303
N/A
N/A
Control
No previous psychiatric history
187353048
188066354
713307
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB787602_1007874634
N/A
N/A
Control
No previous psychiatric history
188026867
188141060
114194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB894345_1007872589
N/A
N/A
Control
No previous psychiatric history
188469795
188871837
402043
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
N/A
N/A
Control
No previous psychiatric history
188399876
188542443
142568
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
N/A
N/A
Control
No previous psychiatric history
189025754
189468336
442583
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
N/A
N/A
Control
No previous psychiatric history
188399876
188467443
67568
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
N/A
N/A
Control
No previous psychiatric history
188188131
188589315
401185
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
N/A
N/A
Control
No previous psychiatric history
188785650
189233726
448077
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
N/A
N/A
Control
No previous psychiatric history
187368586
187527125
158540
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
N/A
N/A
Control
No previous psychiatric history
188130782
188699985
569204
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901025_901025
N/A
N/A
Control
No previous psychiatric history
189749385
190005977
256593
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901025_901025
N/A
N/A
Control
No previous psychiatric history
189106954
189631431
524478
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901058_901058
N/A
N/A
Control
No previous psychiatric history
186999614
187227251
227638
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
N/A
N/A
Control
No previous psychiatric history
189885691
190024323
138633
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
N/A
N/A
Control
No previous psychiatric history
189847983
189979962
131980
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
N/A
N/A
Control
No previous psychiatric history
188821362
188996361
175000
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
N/A
N/A
Control
No previous psychiatric history
189310262
189631431
321170
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
N/A
N/A
Control
No previous psychiatric history
189354225
189559355
205131
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
N/A
N/A
Control
No previous psychiatric history
189885537
189934624
49088
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902889_902889
N/A
N/A
Control
No previous psychiatric history
188188131
188589315
401185
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902889_902889
N/A
N/A
Control
No previous psychiatric history
188785650
189233726
448077
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_117
NA
NA
Control
NA
NA
187544768
188284202
739435
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_169
NA
NA
Control
NA
NA
188721053
190037563
1316511
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split650
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
188526344
189088220
561877
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11429.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11429. SRS score N/A.
188097060
188147372
50313
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11429.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
188091372
188147372
56001
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11473.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
186533688
186609320
75633
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14374.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
188091372
188147372
56001
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU020603
N/A
F
Control
Unaffected sibling
187539846
188639846
1100001
GRCh38
Duplication
No
leppa_16_ASD_discovery_controls-AU1137203
N/A
M
Control
Unaffected sibling
188923846
189476846
553001
GRCh38
Duplication
No
leppa_16_ASD_discovery_controls-AU3510304
N/A
F
Control
Unaffected sibling
187529846
189938845
2409000
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C28078
Control
187609952
187669981
60030
Unknown
Duplication
nord_11_ASD_discovery_controls-04C28230
Control
189189888
189203360
13473
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28420
Control
189332950
189346081
13132
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C28851A
N/A
M
Control
NIMH Control (NIMH ID 46341)
189952160
189960841
8682
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29546A
N/A
F
Control
NIMH Control (NIMH ID 82895)
188002806
188147374
144569
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37412B
N/A
M
Control
NIMH Control (NIMH ID 36050)
188099033
188104934
5902
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37423A
N/A
F
Control
NIMH Control (NIMH ID 25921)
188002806
188147374
144569
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C38506A
N/A
F
Control
NIMH Control (NIMH ID 76095)
186533687
186610015
76329
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
189310262
189397672
87411
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
187284685
187504975
220291
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
186335850
186613221
277372
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
187231483
187238487
7005
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11239.s1
15.1
M
Control (matched sibling)
NA
NA
187284685
187306797
22113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
189713735
190005977
292243
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
189106954
189588654
481701
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11421.s1
8.7
F
Control (matched sibling)
NA
NA
188273507
188695547
422041
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11429.s1
18.6
M
Control (matched sibling)
NA
NA
188010183
188237009
226827
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
186408091
186609868
201778
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11599.s1
4.3
M
Control (matched sibling)
NA
NA
188006668
188014463
7796
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
189842182
189880922
38741
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11654.s1
6.3
F
Control (matched sibling)
NA
NA
188423608
188426424
2817
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11839.s1
4
F
Control (matched sibling)
NA
NA
187455351
187470092
14742
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
187231483
187239773
8291
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12051.s1
7.5
M
Control (matched sibling)
NA
NA
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12281.s1
18.1
F
Control (matched sibling)
NA
NA
189745111
189861873
116763
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12281.s1
18.1
F
Control (matched sibling)
NA
NA
188876107
189677003
800897
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
189901269
190026422
125154
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12532.s1
9
F
Control (matched sibling)
NA
NA
187695266
187702801
7536
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12865.s1
5.8
M
Control (matched sibling)
NA
NA
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12894.s1
4.9
F
Control (matched sibling)
NA
NA
188335644
188344900
9257
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13006.s1
7.5
F
Control (matched sibling)
NA
NA
188006668
188015475
8808
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13063.s1
4
F
Control (matched sibling)
NA
NA
187695266
187702801
7536
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13077.s1
13.9
M
Control (matched sibling)
NA
NA
188335644
188344900
9257
GRCh38
Deletion
No
wang_10_ASD_discovery_controls-Aut141
20
M
Control
NA
NA
189227641
189824738
597098
GRCh38
Duplication
No
wang_10_ASD_discovery_controls-Aut37
27
M
Control
NA
NA
187605190
189164577
1559388
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case3C
Unknown
TUBB7P,FRG1,HSP90AA4P,FRG2,FRG1-DT,DUX4L9,LINC01262,LINC01596,LINC02508,RNA5SP174,RNU1-51P,MLLT10P2,RNA5SP175,RNU7-192P
alayadhi_16_ASD_discovery_cases-caseAUT2-1
qPCR
Maternal
Multiplex
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A,KLKB1
alayadhi_16_ASD_discovery_cases-caseAUT2-2
qPCR
Maternal
Multiplex
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A,KLKB1
alayadhi_16_ASD_discovery_cases-caseAUT9-1
qPCR
Both parents
Multiplex
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A,KLKB1
alayadhi_16_ASD_discovery_cases-caseAUT9-2
qPCR
Both parents
Multiplex
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A,KLKB1
battaglia_13_DD/ID/ASD_discovery_cases-case39
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
RNU6-1055P,MTNR1A,F11-AS1,FAT1
battaglia_13_DD/ID/ASD_discovery_cases-case60
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
ICE2P1,LINC01060
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient4
Possibly paternal
Paternal
Possibly multi-generational
Possibly segregated
LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,LINC02374,TRIML2,LINC02492,LINC01060
celestino-soper_11_ASD_discovery_cases-11030
Unknown
Simplex
NA
FRG1
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1055
Nimblegen aCGH
Unknown
Simplex (negative family history)
Unknown
FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,FAT1,FRG1-DT
costa_21_ASD_discovery_cases-caseP143
De novo
FAT1,MTNR1A
digregorio_17_DD/ID_discovery_cases-DECIPHER_296369
qPCR
Unknown
MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,LINC02374,TRIML2,FRG1,LINC02492,LINC01060,LINC01262,FRG1-DT
digregorio_17_DD/ID_discovery_cases-DECIPHER_300747
qPCR
Maternal
ICE2P1,LINC01060
engchuan_15_ASD_discovery_cases-case13082_963
Unknown
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,TRIML2,LINC02492
engchuan_15_ASD_discovery_cases-case13204_883
Unknown
MRPS36P2,FAT1
engchuan_15_ASD_discovery_cases-case13204_883
Unknown
LINC02515,ADAM20P3,LINC02492
engchuan_15_ASD_discovery_cases-case13204_883
Unknown
RNU6-1055P,F11-AS1
engchuan_15_ASD_discovery_cases-case14221_3550
Unknown
engchuan_15_ASD_discovery_cases-case14389_4980
Unknown
RNU6-1055P,MTNR1A,F11-AS1,FAT1
engchuan_15_ASD_discovery_cases-case14389_4980
Unknown
RNU7-192P,LINC01060
engchuan_15_ASD_discovery_cases-case16033_1571008001
Unknown
HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,AGGF1P1,CLUHP4,DBET,DUX4L8,DUX4L7,DUX4L6,DUX4L5,DUX4L4,DUX4L1,DUX4L3,DUX4L2,FRG1,DUX4L9,RARRES2P4,LINC01262,FRG1-DT
engchuan_15_ASD_discovery_cases-case20052_1277001
Unknown
LINC01060
engchuan_15_ASD_discovery_cases-case20052_1277001
Unknown
engchuan_15_ASD_discovery_cases-case2290_1
Unknown
ICE2P1,LINC01060
engchuan_15_ASD_discovery_cases-case3053_3
Unknown
engchuan_15_ASD_discovery_cases-case3072_8
Unknown
ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,LINC01060
engchuan_15_ASD_discovery_cases-case3072_8
Unknown
FRG1-DT
engchuan_15_ASD_discovery_cases-case3079_1
Unknown
engchuan_15_ASD_discovery_cases-case3437_3
Unknown
FRG1-DT
engchuan_15_ASD_discovery_cases-case3505_3
Unknown
LINC01060
engchuan_15_ASD_discovery_cases-case3505_3
Unknown
ZFP42,RNU6-173P,TRIML1,LINC02434,TRIML2
engchuan_15_ASD_discovery_cases-case3615_3
Unknown
ICE2P1,LINC01060
engchuan_15_ASD_discovery_cases-case3618_3
Unknown
HSP90AA4P
engchuan_15_ASD_discovery_cases-case3618_3
Unknown
LINC01060
engchuan_15_ASD_discovery_cases-case4022_1
Unknown
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,TRIML2,LINC02492,LINC01060
engchuan_15_ASD_discovery_cases-case4273_1
Unknown
LINC01596,MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,FRG1,DUX4L9,FRG1-DT
engchuan_15_ASD_discovery_cases-case4324_1
Unknown
LINC01596,MLLT10P2,FRG1,FRG1-DT
engchuan_15_ASD_discovery_cases-case5351_3
Unknown
LINC02514,LINC02515
engchuan_15_ASD_discovery_cases-case5351_3
Unknown
RNU6-1055P,MTNR1A,F11-AS1,FAT1
engchuan_15_ASD_discovery_cases-case5532_3
Unknown
FRG1-DT
fan_18_DD/ID_discovery_cases-subject1
Unknown
Unknown
LINC02514,LINC02515
gai_11_ASD_discovery_cases-AU1067302
Inherited
FRG1
gai_11_ASD_replication_cases-AU020604
Inherited
ZFP42, TRIML2, TRIML1
gilling_08_ASD_discovery_cases-case1
FISH
Paternal
Simplex
Unknown
RNU6-1055P,MRPS36P2,LINC02514,LINC02515,MTNR1A,LINC02374,F11-AS1,LINC02492,FAT1
girirajan_11_ASD_discovery_cases-Si199
Unknown
Simplex
HSP90AA4P,RNU1-51P,LINC01262,FRG1-DT
girirajan_13a_ASD_discovery_cases-AU020604
Unknown
Multiplex
Unknown
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,TRIML2,LINC02492,LINC01060
girirajan_13b_ASD_discovery_cases-31008110295
Unknown
Unknown
Unknown
RNU1-51P,LINC01596,MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,FRG1,DUX4L9,LINC01262,FRG1-DT
girirajan_13b_ASD_discovery_cases-63104102826
Unknown
Unknown
Unknown
ADAM20P3,LINC02492
guo_17_ASD_discovery_cases-caseM11400
qPCR
Paternal
RNU7-192P,LINC02508,HSP90AA4P,LINC01060
hanchard_12_ASD_discovery_cases-case1
Paternal: epilepsy. Both parents: cognitive processing problems.
Maternal
Multiplex
CNV possibly segregates with autistic features/ASD and sleep problems in pedigree
MTNR1A, FAT1
handrigan_13_ASD/DD/ID_discovery_cases-patient8
Maternal
Unknown
Unknown
RNU6-173P,TRIML1,LINC02434,ICE2P1,TRIML2,LINC01060
han_22_ASD/DD/ID_discovery_cases-case15D3272
De novo
FAT1,F11,TUBB7P,ZFP42,TRIML2,FRG1,HSP90AA4P,TRIML1,F11-AS1,CYP4V2,MRPS36P2,LINC01060,FRG2,SLC25A5P6,ICE2P1,ADAM20P3,FRG1-DT,MTNR1A,KLKB1,DUX4L9,LINC02492,LINC01262,LINC02515,LINC02514,LINC02374,LINC01596,LINC02434,LINC02508,RNA5SP174,RNU1-51P,RNU6-173P,MLLT10P2,RNA5SP175,RNU7-192P,RNU6-1055P
hernando-davalillo_22_ASD/DD_discovery_cases-case1
De novo
FAT1,F11-AS1,MRPS36P2,MTNR1A,LINC02515,LINC02514,LINC02374,RNU6-1055P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000070
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,F11,MTNR1A,LINC02374,KLKB1,F11-AS1,FAT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000633
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,FRG1,LINC01262,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001015
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001757
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MRPS36P2,MTNR1A,LINC02374,FAT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002430
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,LINC01060,LINC01262,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002560
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TRIML1,LINC02434,ICE2P1,LINC01060
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003792
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TRIML2,FRG1,LINC01060,LINC01262,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003809
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,AGGF1P1,FRG1,DUX4L9,RARRES2P4,LINC01060,LINC01262,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004004
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,FRG1,LINC01262,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004192
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,TRIML2,LINC02492,LINC01060
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004237
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,FRG1,LINC01262,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004809
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,FRG1,LINC01262,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004907
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,AGGF1P1,TRIML2,FRG1,DUX4L9,RARRES2P4,LINC02492,LINC01060,LINC01262,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005138
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ADAM20P3,ZFP42,TRIML2,LINC02492
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005273
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-173P,TRIML1,LINC02434,ICE2P1,LINC01060
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005436
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02514,LINC02515,LINC02374,LINC02492
krumm_13_ASD_discovery_cases-case12100.p1
Paternal
Simplex
Segregated
SLC25A5P6,RNU6-1055P,F11,MTNR1A,F11-AS1
krumm_15_ASD_discovery_cases-case12100.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SLC25A5P6,RNU6-1055P,F11,MTNR1A,F11-AS1
krumm_15_ASD_discovery_cases-case14374.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RNU6-173P,TRIML1,TRIML2
larson_17_ASD_discovery_cases-case51
Unknown
Unknown
RNU6-1055P,MTNR1A,F11-AS1,FAT1
leppa_16_ASD_discovery_cases-AU1137201
Paternal
Multiplex
Not segregated (CNV also present in unaffected sibling AU1137203)
HSP90AA4P
leppa_16_ASD_discovery_cases-AU3510301
Paternal
Simplex
Not segregated (CNV also presented in unaffected sibling AU3510304)
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,TRIML2,LINC02492,LINC01060,LINC01262,FRG1-DT
levy_11_ASD_discovery_cases-12100.p1
Paternal
Simplex
Segregated
SLC25A5P6,RNU6-1055P,F11,MTNR1A,F11-AS1
maini_18_ASD/DD/ID_discovery_cases-case152
Paternal
Simplex
Unknown
RNU1-51P,LINC01596,MLLT10P2,FRG1,FRG1-DT
maini_18_ASD/DD/ID_discovery_cases-case_unknown170
Paternal
Unknown
Unknown
maini_18_ASD/DD/ID_discovery_cases-case_unknown171
Unknown
Unknown
Unknown
HSP90AA4P
marshall_08_ASD_discovery_cases-MM0019-003
qPCR, qmPCR
Unknown
NA
NA
HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TUBB7P,FRG1,LINC01262,FRG1-DT
marshall_08_ASD_discovery_cases-MM0109-003
qPCR, qmPCR
Unknown
NA
NA
ICE2P1,LINC01060
marshall_08_ASD_discovery_cases-SK0074-003
qPCR, qmPCR
Unknown
NA
NA
LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,LINC02374,TRIML2,LINC02492,LINC01060
marshall_08_ASD_discovery_cases-SK0083-003
qPCR, qmPCR
Unknown
NA
NA
marshall_08_ASD_discovery_cases-SK0112-003
qPCR, qmPCR
Unknown
NA
NA
ICE2P1,RNU7-192P,LINC02508,LINC01060
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530928
Unknown
DUX4L8,TUBB7P,FRG1,HSP90AA4P,DUX4L4,FRG2,RARRES2P4,FRG1-DT,DUX4L3,DUX4L6,DUX4L2,DUX4L5,DUX4L7,AGGF1P1,DUX4,DUX4L9,CLUHP4,DBET,LINC01262,RPL23AP84,LINC01596,LINC02508,RNA5SP174,RNU1-51P,MLLT10P2,RNA5SP175,DUX4L1
moessner_07_ASD_discovery_cases-case1
Paternal
Simplex
NA
HSP90AA4P,LINC01262
moessner_07_ASD_discovery_cases-case1
Paternal
Simplex
NA
ICE2P1,LINC01060
moreira_14_ASD/EP_discovery_cases-case4
Maternal
Unknown
Unknown
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A,KLKB1
nava_13_ASD_discovery_cases-Fam762Proband9995
Unknown
Simplex
Unknown
ICE2P1,RNU7-192P,LINC02508,LINC01060
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2436
FISH
Unknown
Unknown
Unknown
HSP90AA4P
pinto_10_ASD_discovery_cases-case3072_008
qPCR-Paternal
paternal
Simplex
NA
0 genes
poultney_13_ASD_discovery_cases-case99HI0890A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZFP42,RNU6-173P,TRIML1,TRIML2
prasad_12_ASD_discovery_cases-case170300
Unknown
Unknown
Unknown
TRIML2
prasad_12_ASD_discovery_cases-case47602
Unknown
Unknown
Unknown
FRG1
prasad_12_ASD_discovery_cases-case59640L
Unknown
Unknown
Unknown
LOC401164
prasad_12_ASD_discovery_cases-case59997L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60910L
Unknown
Unknown
Unknown
LOC401164,ZFP42,TRIML2,TRIML1
prasad_12_ASD_discovery_cases-case93185
Unknown
Unknown
Unknown
HSP90AA4P
roberts_13_ASD/DD/ID_discovery_cases-ASDcase3
BACs aCGH or FISH
Unknown
Unknown
Unknown
SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,MTNR1A,LINC02374,F11-AS1,FAT1
rosenfeld_10_ASD_discovery_cases-case13402
FISH
Maternal
Unknown
Unknown
0 genes
rosenfeld_10_ASD_discovery_cases-case17377
FISH
Maternal
Unknown
Unknown
0 genes
rosenfeld_10_ASD_discovery_cases-case21007
FISH
Maternal
Unknown
Unknown
ZFP42,TRIML2
rosenfeld_10_ASD_discovery_cases-case21622
FISH
Maternal
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11071.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02514,LINC02515
sanders_11_ASD_discovery_cases-11071.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-1055P,MTNR1A,F11-AS1,FAT1
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11156.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11167.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG1,DUX4L9
sanders_11_ASD_discovery_cases-11241.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01596,MLLT10P2,TUBB7P,FRG1,FRG1-DT
sanders_11_ASD_discovery_cases-11241.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11263.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11322.p1
Maternal
Simplex (trio)
NA
LINC01060
sanders_11_ASD_discovery_cases-11398.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11421.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ICE2P1,LINC01060
sanders_11_ASD_discovery_cases-11446.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11843.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11928.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11995.p1
Maternal
Simplex (trio)
NA
FRG1-DT
sanders_11_ASD_discovery_cases-12030.p1
Paternal
Simplex (quad-proband matched)
Segregated
FRG1-DT
sanders_11_ASD_discovery_cases-12030.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MLLT10P2,TUBB7P,FRG1,FRG1-DT
sanders_11_ASD_discovery_cases-12051.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12100.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC25A5P6,RNU6-1055P,MRPS36P2,F11,MTNR1A,F11-AS1,FAT1
sanders_11_ASD_discovery_cases-12198.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01596,MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,AGGF1P1,CLUHP4,DBET,DUX4L8,DUX4L7,DUX4L6,DUX4L5,DUX4L4,DUX4L1,DUX4L3,DUX4L2,FRG1,DUX4L9,RARRES2P4,FRG1-DT
sanders_11_ASD_discovery_cases-12198.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12361.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12363.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12865.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
schuch_19_ASD_discovery_cases-case4
Unknown
Unknown
Unknown
LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,LINC02374,TRIML2,LINC02492,LINC01060
shen_10_ASD_discovery_cases-ASD-09-039
Unknown
NA
NA
SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110
soueid_16_ASD_discovery_cases-caseLAS6
De novo
Simplex
LINC01060
szatmari_07_ASD_discovery_cases-NAAR023-D9-3046.001
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ICE2P1,RNU7-192P,LINC02508,LINC01060
szatmari_07_ASD_discovery_cases-NAAR023-F9-3046.003
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ICE2P1,RNU7-192P,LINC02508,LINC01060
szatmari_07_ASD_discovery_cases-NAAR024-A12-3072.008
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01060,LINC01262,FRG1-DT
szatmari_07_ASD_discovery_cases-NAAR024-B12-3072.009
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01060,LINC01262,FRG1-DT
szatmari_07_ASD_discovery_cases-NAAR024-G11-3072.006
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01060,LINC01262,FRG1-DT
szatmari_07_ASD_discovery_cases-NAAR027-C6-3120.003
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR027-D6-3120.004
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR027-E6-3120.005
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR041-G10-01C05471
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01262,FRG1-DT
szatmari_07_ASD_discovery_cases-NAAR041-G7-01C05468
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01262,FRG1-DT
szatmari_07_ASD_discovery_cases-NAAR062-D4-HI0888
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ICE2P1,LINC01060
szatmari_07_ASD_discovery_cases-NAAR062-D5-HI0889
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,TRIML2,LINC02492,LINC01060
szatmari_07_ASD_discovery_cases-NAAR062-D6-HI0890
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,TRIML2,LINC02492,LINC01060
szatmari_07_ASD_discovery_cases-NAAR062-D7-HI0891
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ADAM20P3,ZFP42,LINC02492
szatmari_07_ASD_discovery_cases-NAAR070-H5-HI3148
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR071-A5-HI3159
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR071-A7-HI3161
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR073-E12-04C35554
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ICE2P1,RNU7-192P,LINC02508,LINC01060
szatmari_07_ASD_discovery_cases-NAAR073-F2-04C35556
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ICE2P1,RNU7-192P,LINC02508,LINC01060
szatmari_07_ASD_discovery_cases-NAAR073-H10-04C35587
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
ICE2P1,RNU7-192P,LINC02508,LINC01060
tropeano_16_ASD_discovery_cases-MAAS7
MLPA or aCGH
Unknown
Unknown
Unknown
RNU6-173P,TRIML1,LINC02434,ICE2P1,TRIML2,LINC01060
walker_13_ASD_discovery_cases-case1-0455-003
Unknown
Multiplex
Unknown
wang_10_ASD_discovery_cases-AC0025
Unknown
NA
NA
LINC02508,HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TUBB7P,FRG1,LINC01262,FRG1-DT
wenger_16_ASD_discovery_cases-case14
Unknown
Gene content N/A
yap_21_ASD_discovery_cases-case2202699
Maternal
Multiplex
FAT1,ZFP42,TRIML2,TRIML1,MRPS36P2,LINC01060,ADAM20P3,ICE2P1,LINC02492,LINC02515,LINC02508,LINC02514,LINC02434,LINC02374,RNU6-173P,RNU7-192P
yingjun_17_ASD_discovery_cases-case7857
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
RNU6-173P,TRIML1,LINC02434,ICE2P1,TRIML2,LINC01060
yin_16_ASD_discovery_cases-case213
Unknown
Unknown
Unknown
ICE2P1,LINC01060
zhou_19_ASD_discovery_cases-caseAU061503
qPCR
Paternal
FAT1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20022
Unknown
RNU6-1055P,MTNR1A,F11-AS1,FAT1
engchuan_15_ASD_discovery_controls-control110036022796_
Unknown
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,TRIML2,LINC02492,LINC01060
engchuan_15_ASD_discovery_controls-control110036023588_
Unknown
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
Unknown
ICE2P1,LINC01060
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
Unknown
HSP90AA4P
engchuan_15_ASD_discovery_controls-controlB456613_1007854343
Unknown
HSP90AA4P
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
Unknown
ICE2P1,LINC01060
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
Unknown
engchuan_15_ASD_discovery_controls-controlB534543_1007874558
Unknown
engchuan_15_ASD_discovery_controls-controlB537495_1007853968
Unknown
ZFP42,RNU6-173P,TRIML1,LINC02434,TRIML2
engchuan_15_ASD_discovery_controls-controlB621960_1007854303
Unknown
engchuan_15_ASD_discovery_controls-controlB621960_1007854303
Unknown
LINC02514,LINC02515,ADAM20P3,ZFP42,LINC02492
engchuan_15_ASD_discovery_controls-controlB787602_1007874634
Unknown
RNU6-173P,TRIML1,TRIML2
engchuan_15_ASD_discovery_controls-controlB894345_1007872589
Unknown
RNU7-192P,LINC02508,LINC01060
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
Unknown
LINC01060
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
Unknown
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
Unknown
LINC01060
engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
Unknown
ICE2P1,LINC01060
engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
Unknown
LINC02514,LINC02515
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
Unknown
TRIML1,LINC02434,ICE2P1,LINC01060
engchuan_15_ASD_discovery_controls-controlHABC_901025_901025
Unknown
LINC01596,MLLT10P2,TUBB7P,FRG1,FRG1-DT
engchuan_15_ASD_discovery_controls-controlHABC_901025_901025
Unknown
HSP90AA4P
engchuan_15_ASD_discovery_controls-controlHABC_901058_901058
Unknown
LINC02374
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
Unknown
MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG1,DUX4L9,FRG1-DT
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
Unknown
LINC01596,MLLT10P2,FRG1,FRG1-DT
engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
Unknown
HSP90AA4P
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
Unknown
HSP90AA4P
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
Unknown
FRG1-DT
engchuan_15_ASD_discovery_controls-controlHABC_902889_902889
Unknown
ICE2P1,LINC01060
engchuan_15_ASD_discovery_controls-controlHABC_902889_902889
Unknown
girirajan_11_ASD_discovery_controls-NIMH_117
Unknown
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,TRIML2,LINC02492
girirajan_11_ASD_discovery_controls-NIMH_169
Unknown
LINC02508,HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,FRG1,DUX4L9,LINC01262,FRG1-DT
kanduri_15_ASD_discovery_controls-control_split650
Unknown
TRIML1,TRIML2,ZFP42
krumm_13_ASD_discovery_controls-control11429.s1
Paternal
Simplex
RNU6-173P,TRIML1,TRIML2
krumm_15_ASD_discovery_controls-control11429.s1
Illumina 1M
Paternal
RNU6-173P,TRIML1,TRIML2
krumm_15_ASD_discovery_controls-control11473.s1
Illumina 1M
Paternal
MTNR1A,FAT1
krumm_15_ASD_discovery_controls-control14374.s1
Omni2.5-4v1
Maternal
RNU6-173P,TRIML1,TRIML2
leppa_16_ASD_discovery_controls-AU020603
Paternal
Multiplex
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,TRIML2,LINC02492,LINC01060
leppa_16_ASD_discovery_controls-AU1137203
Paternal
Multiplex
HSP90AA4P
leppa_16_ASD_discovery_controls-AU3510304
Paternal
Simplex
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,TRIML2,LINC02492,LINC01060,LINC01262,FRG1-DT
nord_11_ASD_discovery_controls-04C28078
0 genes
nord_11_ASD_discovery_controls-04C28230
0 genes
nord_11_ASD_discovery_controls-04C28420
0 genes
poultney_13_ASD_discovery_controls-control04C28851A
Unknown
FRG1
poultney_13_ASD_discovery_controls-control04C29546A
Unknown
ZFP42,RNU6-173P,TRIML1,TRIML2
poultney_13_ASD_discovery_controls-control04C37412B
Unknown
TRIML2
poultney_13_ASD_discovery_controls-control04C37423A
Unknown
ZFP42,RNU6-173P,TRIML1,TRIML2
poultney_13_ASD_discovery_controls-control04C38506A
Unknown
MTNR1A,FAT1
sanders_11_ASD_discovery_controls-11041.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11071.s1
Paternal
Simplex (quad)
NA
LINC02514,LINC02515
sanders_11_ASD_discovery_controls-11071.s1
Paternal
Simplex (quad)
NA
RNU6-1055P,MTNR1A,F11-AS1,FAT1
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11239.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11241.s1
Paternal
Simplex (quad)
NA
LINC01596,MLLT10P2,TUBB7P,FRG1,FRG1-DT
sanders_11_ASD_discovery_controls-11241.s1
Paternal
Simplex (quad)
NA
HSP90AA4P
sanders_11_ASD_discovery_controls-11241.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11421.s1
Maternal
Simplex (quad)
NA
ICE2P1,LINC01060
sanders_11_ASD_discovery_controls-11429.s1
Paternal
Simplex (quad)
NA
RNU6-173P,TRIML1,LINC02434,TRIML2
sanders_11_ASD_discovery_controls-11473.s1
Paternal
Simplex (quad)
NA
RNU6-1055P,MTNR1A,F11-AS1,FAT1
sanders_11_ASD_discovery_controls-11599.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11601.s1
Paternal
Simplex (quad)
NA
FRG1-DT
sanders_11_ASD_discovery_controls-11654.s1
Paternal
Simplex (quad)
NA
LINC01060
sanders_11_ASD_discovery_controls-11839.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11843.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12041.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12051.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12281.s1
Paternal
Simplex (quad)
NA
FRG1-DT
sanders_11_ASD_discovery_controls-12281.s1
Paternal
Simplex (quad)
NA
HSP90AA4P,LINC01262
sanders_11_ASD_discovery_controls-12418.s1
Maternal
Simplex (quad)
NA
MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,FRG1,DUX4L9,FRG1-DT
sanders_11_ASD_discovery_controls-12532.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12865.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12894.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13006.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13063.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13077.s1
Maternal
Simplex (quad)
NA
wang_10_ASD_discovery_controls-Aut141
Unknown
NA
NA
HSP90AA4P,RNU1-51P,LINC01262,FRG1-DT
wang_10_ASD_discovery_controls-Aut37
Unknown
NA
NA
ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,TRIML2,LINC02492,LINC01060
No Animal Model Data Available