8p23.3CNV Type: Deletion-Duplication
Largest CNV size: 817528 bp
Statistics Box:
Number of Reports: 37
Number of Reports: 37
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees
Duplication
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
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.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
alvarez-mora_16_ASD_discovery_cases
Unrelated ASD male patients from Spain
50
All cases fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R; most cases presented with high-functioning ASD without facial dysmorphic features
10.85 8.02 yrs.
Male
220000
1
0
1
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
543146
0
1
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
15314
1
0
1
catusi_21_ASD/DD/ID/EP_discovery_cases
Seven new patients with interstitial microdeletions included in the 8p23.2-pter region (6 from the Cytogenetics/Cytogenomics working group of the Italian Society of Human Genetics (SIGU), 1 from DECIPHER)
7
Six individuals presented with developmental delay and/or intellectual disability; additional clinical features included three individuals presenting with autism spectrum disorder, two with epilepsy, and one with ADHD.
Range, 2-38 yrs.
85.71% Male
1718172
4
0
4
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
559299
0
1
1
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
597000
0
1
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
296426
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
485757
24
3
27
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
186030
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
131468
2
1
3
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
315000
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
125946
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
147557
0
4
4
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1969613
7
0
7
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
53895
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
5467
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
47757
4
4
8
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
277386
1
0
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
32195
1
0
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
499622
1
1
2
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
162390
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
45310
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
791089
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
55674
0
1
1
okur_21_ASD/EP/NDD_discovery_cases
Individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p) (selected from an original cohort of 97 individuals).
89
All patients presented with neurodevelopmental features (NDD); a subset of patients presented with autism spectrum disorder and/or epilepsy/seizures.
Range, 0.8-33.9 yrs.
47.19% Male
1809177
4
0
4
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
122716
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
817528
1
2
3
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)
475116
2
1
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
825948
1
1
2
reis_17_ASD/ID_discovery_cases
Two siblings (one male, one female) with syndromic ASD who participated in an ongoing exome research study at the Autism Spectrum Disorder Program Clinic of the Psychiatric Institute of the University of Sao Paulo School of Medicine
2
The male sibling met criteria for a diagnosis of ASD according to DSM-5 criteria (CARS score 33.5), while the female sibling was diagnosed with intellectual disability and syndromic features (CARS score 24.0)
Range, 29-33 yrs.
50% Male
752000
2
0
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
183948
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
211507
25
3
28
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
289000
1
1
2
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
535000
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
werling_19_ASD_discovery_cases
Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
108
Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
86.11% Male
739619
0
1
1
woodbury-smith_20_ASD_discovery_cases
ASD cases from nine Canadian extended pedigrees (defined as having at least three ASD cases spread across at least two nuclear families)
39
Cases diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria)
Mean age, 123.84 months (SD 101.70)
87.18% Male (6.8:1 M:F ratio)
354955
0
3
3
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
364238
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
829313
0
4
4
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
0
0
0
0
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
642041
21
6
27
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
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
221252
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
268169
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
217656
2
2
4
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
206300
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
284847
1
2
3
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)
825948
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.
89217
14
3
17
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
364238
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
alvarez-mora_16_ASD_discovery_cases
Spain
aCGH, array SNP
Agilent 180K, Affymetrix CytoScan HD
Agilent Cytogenomics v2.0, Affymetrix ChAS v1.2.2
None
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
catusi_21_ASD/DD/ID/EP_discovery_cases
Italy
aCGH
Bluegnome 4x180K CytoChip Oligo ISCA, Agilent SurePrint G3 4x180K, Agilent SurePrint G3 Oligo ISCA v2.0 4x180K, Agilent SurePrint G3 8x60K
FISH
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
okur_21_ASD/EP/NDD_discovery_cases
N/A
CMA
N/A
N/A
N/A
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
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
reis_17_ASD/ID_discovery_cases
Brazil
aCGH
Agilent 180K
ADM-2
Agilent Feature Extraction 10.7.3.1
MLPA, FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
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
werling_19_ASD_discovery_cases
Europe
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
None
woodbury-smith_20_ASD_discovery_cases
Northern European
Array SNP, solid phase hybridization
Affymetrix 6.0, Affymetrix CytoScan HD, Illumina HumanCoreExome, Illumina Omni 2.5M, Illumina Omni 1M
ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite, PennCNV, QuantiSNP
qPCR, TaqMan, and/or visualization of bam files
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
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
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_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
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
alvarez-mora_16_ASD_discovery_cases-caseASD-26
N/A
M
ASD
Case fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R.
1655719
1677240
21522
GRCh38
Deletion
No
annunziata_21_ASD_discovery_cases-caseIB288
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
1474078
2017223
543146
GRCh38
Duplication
Yes
bacchelli_20_ASD_discovery_cases-caseAB145
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
1348990
1364303
15314
GRCh38
Deletion
No
catusi_21_ASD/DD/ID/EP_discovery_cases-case1
13 yrs.
M
Intellectual disability and speech delay
Developmental milestones: language and speech delay. Motor and musculoskeletal evaluation: motor instability, dyspraxia; skeletal anomalies. Additional medical history: myopia, strabismus. Dysmorphic features: unspecified dysmorphic features.
Mild intellectual disability
226475
1944646
1718172
GRCh38
Deletion
Yes
catusi_21_ASD/DD/ID/EP_discovery_cases-case4
2 yrs.
M
ASD and ADHD
Behavioral/psychiatric evaluation: autism spectrum disorder, hyperkinetic behavior, ADHD. Additional medical history: hippocampal anomalies, heart anomalies.
1583525
1655317
71793
GRCh38
Deletion
No
catusi_21_ASD/DD/ID/EP_discovery_cases-case6
38 yrs.
M
Developmental delay and epilepsy
Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: fine motor and gross motor coordination problems, scoliosis. Epilepsy/seizures: epilepsy. Family history: 8p deletion also observed in the patient's unaffected brother.
1783288
1905773
122486
GRCh38
Deletion
No
catusi_21_ASD/DD/ID/EP_discovery_cases-case7
12 yrs.
F
Developmental delay and epilepsy
Developmental milestones: developmental delay, language and speech delay. Motor and musculoskeletal evaluation: scoliosis. Behavioral/psychiatric evaluation: hyperkinetic behavior, hyperactivity, attention deficit, aggressive behavior. Epilepsy/seizures: epilepsy. Additional medical history: emmetropia, horseshoe kidney, hypereosinophily, teeth cavities, hypothyroidism. Patient deposited in DECIPHER database (DECIPHER ID 383055).
1825973
1909297
83325
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case83
NA
M
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
687317
1246615
559299
GRCh38
Duplication
No
chen_17_ASD_discovery_cases-caseU-1414
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 15 (past score 23); Qualitative abnormalities in verbal and nonverbal communication, current score 19 (past score 23); Qualitative abnormalities in nonverbal communication, current score 9 (past score 12); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 7); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 102; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 45. Epilepsy: no history of epilepsy.
Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
612629
1209817
597189
GRCh38
Duplication
Yes
davis_09_ASD_discovery_cases-AU016205
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
1922643
2219069
296426
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case13157_1743
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
286656
415789
129134
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14018_380
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
332217
809178
476962
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14272_3950
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
475369
555001
79633
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14366_980
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16039_1571028001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
279694
361666
81973
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16041_1571054001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16076_1571045001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
214984
297841
82858
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18122_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366396
416750
50355
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1966_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20137_1254001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2200_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3216_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4239_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
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)
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4520_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4531_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4535_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5225_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5354_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5368_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
376352
441574
65223
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6232_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6400_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
663620
916207
252588
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8433_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8452_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8582_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
239030
319055
80026
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8743_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case9610_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
366335
416750
50416
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000048
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S55
N/A
308287
494317
186031
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1153303
Autism
2023883
2036238
12356
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1514301
Autism
447459
556207
108749
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1731302
Autism
1664196
1795663
131468
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-13716.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
450000
760000
310001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-17408109789
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
431727
557577
125851
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY119
4 yrs. 7 mos.
M
ASD
595789
743345
147557
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY131
NA
NA
NA
1807114
1937876
130763
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY18
3 yrs. 3 mos.
M
ASD
1800774
1937876
137103
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY83
3 yrs. 4 mos.
M
ASD
1535017
1589755
54739
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000119
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
764384
522855
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000742
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
244617
2017223
1772607
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000964
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
1371695
1130166
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001835
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1739267
1891412
152146
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002506
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
202100
2017223
1815124
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004235
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
1532621
1291092
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005196
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241330
1847998
1606669
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case2973
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
1331632
1385526
53895
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case11196.p1
N/A
M
ASD
ASD proband from SSC quad family 11196. SRS score of 80.
Full-scale IQ (FSIQ) score of 112.
240895
246362
5468
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11196.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
240895
246362
5468
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12041.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
449989
468804
18816
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12573.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
273040
285781
12742
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13038.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
300883
326590
25708
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13487.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
273040
284054
11015
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13792.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
240895
246362
5468
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13914.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
1857959
1905716
47758
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14240.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
240895
246362
5468
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1732
21 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
1050516
1327901
277386
GRCh38
Deletion
N/A
kushima_22_BPD_discovery_cases-caseBD1995
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
1632235
1664429
32195
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1732
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
1050515
1327901
277387
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1929
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
767777
1267398
499622
GRCh38
Duplication
Yes
leite_22_DD/ID_discovery_cases-case028
2 yrs.
M
Developmental delay
Global developmental delay, multiple stigmas
1638386
1800775
162390
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11275.p1
NA
M
ASD
NA
NA
448198
493507
45310
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0262-003
NA
M
ASD
RL/EL moderate delay, very severe repetitive behavior
IQ/LOF 68
770491
1566007
795517
GRCh38
Duplication
Yes
mosca_16_DCD_discovery_cases-case117404
N/A
F
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
1032926
1088599
55674
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_2-DLGAP2
7.5 yrs.
F
NDD
Prenatal history: SGA. Neurologic profile: Difficulty walking/Wobbly, clumsy gait, Coordination problems. Visual abnormalities: Refractive error. Musculoskeletal abnormalities: Hypermobile joints, Pes planus. Additional medical history: Asthma.
60000
1702838
1642839
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_2
7.9 yrs.
F
ASD
Neonatal history: Floppy infant, Overly sleepy. Neurobehavioral: Autism. Neurologic: Hypotonia, Hypertonia, Microcephaly. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Sleep problems: Unspecified sleep problems. Gastrointestinal abnormalities: Constipation, Feeding difficulty, Other gastrointestinal abnormalities. Musculoskeletal abnormalities: Hypermobile joints. Genitourinary abnormalities: Unspecified genitourinary abnormalities. Growth and Endocrine abnormalities: Hypo/hyperthyroidism. Skin abnormalities: Dry skin. Frequent infections: Otitis media, Lower respiratory infections. Dental abnormalities: Prognathism. Additional medical history: Conductive hearing loss (fluid).
76141
1112468
1036328
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_50
3.8 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Overly sleepy. Neurologic profile: Difficulty walking/Wobbly, clumsy gait, Macrocephaly. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Hydrocephalus/Ventriculomegaly, Other brain imaging abnormality. Seizures: Absence, Febrile. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Eczema. Frequent infections: Otitis media. Additional medical history: Conductive hearing loss (fluid).
241604
2017223
1775620
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_51
13.9 yrs.
M
NDD
Neonatal history: Feeding difficulty, Poor suck, Overly sleepy. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Short attention span/ADD/ADHD/Hyperactivity, Anxiety. Gastrointestinal abnormalities: GERD, Diarrhea. Musculoskeletal abnormalities: Inguinal hernia.
208047
2017223
1809177
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case115
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: CLN8 ARHGEF10 deletion
1770931
1893647
122717
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5225_3
NA
M
Autism
NA
NA
366335
416750
50416
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5290_3
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features
Unable to complete IQ measure
704383
1521910
817528
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5368_3
NA
M
ASD
NA
NA
376352
441574
65223
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case98HI0158A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU010904; NDAR ID NDAR_INVWN987FMF)
234089
328117
94029
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0555A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU044004; NDAR ID NDAR_INVMU758BXY)
273039
284056
11018
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI1083A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU060303; NDAR ID NDAR_INVFG744LPG)
240894
716009
475116
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case48301L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
1111405
1129299
17895
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68609
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
694703
1520650
825948
Unknown
Duplication
No
reis_17_ASD/ID_discovery_cases-case1
33 yrs.
M
ASD and intellectual disability
Case met criteria for a diagnosis of ASD according to DSM-5, CARS score of 33.5. Birth/neonatal history: uneventful pregnancy and vaginal delivery without complications; birth weight or length not available. Developmental milestones: case had spoken individual words only after 2 years of age and had stopped producing any words at all by 4 years of age; first steps at 2 years of age. Language and communication evaluation: able to understand simple commands, difficulty obeying some commands; absent speech (non-verbal, guttural sounds and screams are present), absence of functional communication. Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, kyphoscoliosis, symmetric but slightly diminished deep reflexes, discrete hypotonia, gait was symmetric with large steps. Behavioral/psychiatric evaluation: irritability (mainly in the morning), occasional autoaggressive or outwardly directed aggressive behavior; stereoypic movements, did not sustain eye contact or initiate interaction, agitation, unmotivated laughter, inappropriate social contact. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, crowded teeth, low-set ears, malformed ears, widely spaced nipples. Growth parameters: height 190 cm, weight 95.8 cm, OFC 60 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
Diagnosed with intellectual disability in 1992
226814
978886
752073
GRCh38
Deletion
Yes
reis_17_ASD/ID_discovery_cases-case2
29 yrs.
F
Intellectual disability
Birth/neonatal history: reported abdominal pain and vaginal bleeding during pregnancy; delivery by C-section; birth weight 4140 g, length 51 cm. Developmental milestones: first steps at 18 months of age, had not begun to produce speech until after 2 years of age. Language and communication evaluation: able to understand simple and some complex commands, uses imitation, verbal with simple sentences with substitutions (mostly "r" for "l"). Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, hypoplastic nails, kyphosis, exhibited some difficulty standing on one foot, gait was symmetric with large steps. Behavioral/psychiatric evaluation: CARS score of 24.0; presented eye contact and initiated interaction in an inappropriate form, quite puerlie with no functionality; psychomotor agitation (mainly in the mornings); occasionally aggressive, but affectionate and gentle most of the time; liked playing with other children; sometimes exhibited periods of inappropriate, hypersocial behavior and periods during which she could not stop talking; sleep difficulties. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, thin lips, crowded teeth, low-set ears, malformed ears. Growth parameters: height of 183 cm, weight of 91.5 kg, OFC 59 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
Diagnosed with intellectual disability in 1992
226814
978886
752073
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-097
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
330645
514592
183948
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11051.p1
12.2
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
363996
409165
45170
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11053.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
366335
409165
42831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11188.p1
15.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
376352
387164
10813
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11275.p1
14.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
450600
495791
45192
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11359.p1
5.5
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
264809
276124
11316
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11372.p1
5.7
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
368548
416750
48203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
366335
431787
65453
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11573.p1
8.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
376352
393747
17396
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
370972
416750
45779
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
366335
409165
42831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11610.p1
7.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
370972
416750
45779
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11722.p1
11.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
1146519
1359860
213342
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11798.p1
4.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 113
376352
393747
17396
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
368548
431787
63240
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12028.p1
9.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
370972
416750
45779
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
430770
470276
39507
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12099.p1
8
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
366335
409165
42831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
368548
416750
48203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12170.p1
7.8
F
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
376352
393747
17396
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
370972
409165
38194
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
1867473
1884678
17206
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
376352
393747
17396
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12351.p1
13.6
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 68; verbal IQ, 37
376352
393747
17396
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12480.p1
13.1
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
370972
416750
45779
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12536.p1
5.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
370972
416750
45779
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12573.p1
17
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 70; verbal IQ, 80
272430
284041
11612
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12671.p1
12.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
376352
393747
17396
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13038.p1
8.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
300302
368548
68247
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case53
4 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies
1274868
1565483
290616
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case53
4 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies
1606021
1680120
74100
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK40
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
734607
1269586
534980
GRCh38
Duplication
No
werling_19_ASD_discovery_cases-caseA107
10 yrs.
M
ASD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.1); diagnosis confirmed using either ADOS or ADI-R (ADOS score 5; ADI-R A/B/C/D scores 13/9/2/0)
IQ score 98 (SON-R)
626323
1365941
739619
GRCh38
Duplication
No
woodbury-smith_20_ASD_discovery_cases-case1-0627-003
N/A
M
ASD
Case diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria). VABS scores: social scaled score, 107; communication scaled score, 98; daily living scaled score, 117; repetitive behavior total score 43. Social communication questionnaire (SCQ) score 20. Oral and written language scales (OWLS II) score 106. CNV observed in two other affected brothers but absent in two additional affected brothers.
Wechsler full-scale IQ 108; perceptual reasoning index score 112; verbal comprehension index score 103
1551797
1906751
354955
GRCh38
Duplication
Yes
woodbury-smith_20_ASD_discovery_cases-case1-0627-004
N/A
M
ASD and ADHD
Case diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria); case also diagnosed with ADHD. VABS score: social scaled score, 57; communication scaled score, 84; daily living scaled score, 91; repetitive behavior total score, 51. Social communication questionnaire (SCQ) score 19. Oral and written language scales (OWLS II) score 107. CNV observed in two other affected brothers but absent in two additional affected brothers.
Wechsler full-scale IQ 106; perceptual reasoning index score 108; verbal comprehension index score 102
1551797
1906751
354955
GRCh38
Duplication
Yes
woodbury-smith_20_ASD_discovery_cases-case1-0627-006
N/A
M
ASD and ADHD
Case diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria); case also diagnosed with ADHD. VABS score: social scaled score, 68; communication scaled score, 91; daily living scaled score, 97; repetitive behavior total score, 56. Social communication questionnaire (SCQ) score 16. Oral and written language scales (OWLS II) score 109. CNV observed in two other affected brothers but absent in two additional affected brothers.
Wechsler full-scale IQ 96; perceptual reasoning index score 99; verbal comprehension index score 94
1551797
1906751
354955
GRCh38
Duplication
Yes
yin_16_ASD_discovery_cases-case294
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
770491
1134728
364238
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0262-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
754943
1586089
831147
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0627-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
1589305
1906751
317447
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0627-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
1552679
1906751
354073
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0627-006
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
1551797
1906751
354955
GRCh38
Duplication
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
engchuan_15_ASD_discovery_controls-control110036023364_
N/A
N/A
Control
No previous psychiatric history
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024867_
N/A
N/A
Control
No previous psychiatric history
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB159476_1007873588
N/A
N/A
Control
No previous psychiatric history
1174032
1256850
82819
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
N/A
N/A
Control
No previous psychiatric history
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB338193_1007852606
N/A
N/A
Control
No previous psychiatric history
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB366713_1007844576
N/A
N/A
Control
No previous psychiatric history
222930
255213
32284
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB488132_1007853404
N/A
N/A
Control
No previous psychiatric history
330241
394543
64303
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB519248_1007840750
N/A
N/A
Control
No previous psychiatric history
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB703785_1007873472
N/A
N/A
Control
No previous psychiatric history
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB742758_1007875311
N/A
N/A
Control
No previous psychiatric history
214984
260687
45704
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB749532_1007845879
N/A
N/A
Control
No previous psychiatric history
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB834607_0067942618
N/A
N/A
Control
No previous psychiatric history
363996
416750
52755
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB957333_1007873686
N/A
N/A
Control
No previous psychiatric history
366396
416750
50355
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900290_900290
N/A
N/A
Control
No previous psychiatric history
376352
809178
432827
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
N/A
N/A
Control
No previous psychiatric history
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900452_900452
N/A
N/A
Control
No previous psychiatric history
366335
409165
42831
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900457_900457
N/A
N/A
Control
No previous psychiatric history
239030
289299
50270
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900543_900543
N/A
N/A
Control
No previous psychiatric history
368548
409165
40618
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901088_901088
N/A
N/A
Control
No previous psychiatric history
376352
459506
83155
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901203_901203
N/A
N/A
Control
No previous psychiatric history
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901219_901219
N/A
N/A
Control
No previous psychiatric history
620463
657251
36789
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901238_901238
N/A
N/A
Control
No previous psychiatric history
366335
416750
50416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
N/A
N/A
Control
No previous psychiatric history
1059313
1196100
136788
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
N/A
N/A
Control
No previous psychiatric history
505360
1036301
530942
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902629_902629
N/A
N/A
Control
No previous psychiatric history
1748920
1811300
62381
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
N/A
N/A
Control
No previous psychiatric history
239030
373858
134829
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
N/A
N/A
Control
No previous psychiatric history
633248
699190
65943
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1399
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
1937286
2158537
221252
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11196.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11196. SRS score of 53.
240895
432935
192041
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control12727.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12727. SRS score of 58.
1876570
2017223
140654
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11227.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
1771054
1817632
46579
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12261.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
1866525
1885707
19183
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13123.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
240895
458551
217657
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13487.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
273040
284054
11015
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-12791.s1
NA
M
Control
NA
NA
216591
422890
206300
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C32411A
N/A
F
Control
NIMH Control (NIMH ID 99385)
1859895
2017223
157329
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36383A
N/A
M
Control
NIMH Control (NIMH ID 85807)
240894
468806
227913
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C42353
N/A
F
Control
NIMH Control (NIMH ID 12920)
235484
252828
17345
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11047.s1
12.9
F
Control (matched sibling)
NA
NA
366396
431787
65392
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11053.s1
13.3
M
Control (matched sibling)
NA
NA
366335
416750
50416
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11208.s1
11.4
F
Control (matched sibling)
NA
NA
505360
510350
4991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
1733567
1822784
89218
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11372.s1
4
M
Control (matched sibling)
NA
NA
370972
416750
45779
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11453.s1
8.8
F
Control (matched sibling)
NA
NA
357667
359548
1882
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
339936
340461
526
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11552.s1
6
F
Control (matched sibling)
NA
NA
1989120
2000960
11841
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11573.s1
10.3
F
Control (matched sibling)
NA
NA
376352
393747
17396
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11599.s1
4.3
M
Control (matched sibling)
NA
NA
368548
416750
48203
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11673.s1
7.9
M
Control (matched sibling)
NA
NA
366335
416750
50416
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
376352
393747
17396
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
430770
453304
22535
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12113.s1
6.5
M
Control (matched sibling)
NA
NA
368548
409165
40618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12187.s1
10.2
F
Control (matched sibling)
NA
NA
336284
370972
34689
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
1867473
1884678
17206
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12962.s1
8.3
F
Control (matched sibling)
NA
NA
366335
409165
42831
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
alvarez-mora_16_ASD_discovery_cases-caseASD-26
Unknown
Unknown
Unknown
DLGAP2
annunziata_21_ASD_discovery_cases-caseIB288
qPCR, FISH
Maternal
CLN8,MIR596,MIR3674,DLGAP2-AS1,KBTBD11-OT1,DLGAP2,KBTBD11,ARHGEF10
bacchelli_20_ASD_discovery_cases-caseAB145
Maternal
Simplex
DLGAP2
catusi_21_ASD/DD/ID/EP_discovery_cases-case1
FISH
Unknown
MIR3674,MIR596,RPL23AP53,FAM87A,FBXO25,CLN8,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2
catusi_21_ASD/DD/ID/EP_discovery_cases-case4
De novo
DLGAP2-AS1,DLGAP2
catusi_21_ASD/DD/ID/EP_discovery_cases-case6
Inherited
Not segregated
MIR3674,MIR596,CLN8,KBTBD11-OT1,ARHGEF10
catusi_21_ASD/DD/ID/EP_discovery_cases-case7
Unknown
KBTBD11-OT1,ARHGEF10
chehbani_22_ASD_discovery_cases-case83
Unknown
Simplex
ERICH1,DLGAP2
chen_17_ASD_discovery_cases-caseU-1414
RT-qPCR
Maternal
Simplex
ERICH1,DLGAP2
davis_09_ASD_discovery_cases-AU016205
Unknown
Unknown
Unknown
MYOM2, KBTBD11
engchuan_15_ASD_discovery_cases-case13157_1743
Unknown
FAM87A,FBXO25
engchuan_15_ASD_discovery_cases-case14018_380
Unknown
engchuan_15_ASD_discovery_cases-case14272_3950
Unknown
FBXO25,TDRP
engchuan_15_ASD_discovery_cases-case14366_980
Unknown
engchuan_15_ASD_discovery_cases-case16039_1571028001
Unknown
engchuan_15_ASD_discovery_cases-case16041_1571054001
Unknown
engchuan_15_ASD_discovery_cases-case16076_1571045001
Unknown
RPL23AP53,ZNF596
engchuan_15_ASD_discovery_cases-case18122_301
Unknown
engchuan_15_ASD_discovery_cases-case1966_301
Unknown
engchuan_15_ASD_discovery_cases-case20137_1254001
Unknown
engchuan_15_ASD_discovery_cases-case2200_1
Unknown
engchuan_15_ASD_discovery_cases-case3216_3
Unknown
engchuan_15_ASD_discovery_cases-case4239_1
Unknown
engchuan_15_ASD_discovery_cases-case4324_1
Unknown
engchuan_15_ASD_discovery_cases-case4520_1
Unknown
engchuan_15_ASD_discovery_cases-case4531_1
Unknown
engchuan_15_ASD_discovery_cases-case4535_1
Unknown
engchuan_15_ASD_discovery_cases-case5225_3
Unknown
engchuan_15_ASD_discovery_cases-case5354_3
Unknown
engchuan_15_ASD_discovery_cases-case5368_3
Unknown
engchuan_15_ASD_discovery_cases-case6232_6
Unknown
engchuan_15_ASD_discovery_cases-case6400_5
Unknown
ERICH1,DLGAP2
engchuan_15_ASD_discovery_cases-case8433_202
Unknown
engchuan_15_ASD_discovery_cases-case8452_201
Unknown
engchuan_15_ASD_discovery_cases-case8582_201
Unknown
ZNF596
engchuan_15_ASD_discovery_cases-case8743_202
Unknown
engchuan_15_ASD_discovery_cases-case9610_201
Unknown
fitzgerald_14_ASD/DD/ID_discovery_cases-case000048
De novo
Unknown
Unknown
FAM87A,FBXO25,TDRP
gai_11_ASD_discovery_cases-AU1153303
Inherited
MYOM2
gai_11_ASD_discovery_cases-AU1514301
Inherited
C8orf42
gai_11_ASD_discovery_cases-AU1731302
Inherited
CLN8, ARHGEF10
girirajan_13a_ASD_discovery_cases-13716.p1
Unknown
Simplex
Unknown
FBXO25,TDRP,ERICH1,DLGAP2
girirajan_13b_ASD_discovery_cases-17408109789
Unknown
Unknown
Unknown
han_22_ASD/DD/ID_discovery_cases-caseY119
Unknown
ERICH1,DLGAP2
han_22_ASD/DD/ID_discovery_cases-caseY131
Unknown
MIR596,KBTBD11-OT1,ARHGEF10
han_22_ASD/DD/ID_discovery_cases-caseY18
Unknown
CLN8,MIR596,MIR3674,KBTBD11-OT1,ARHGEF10
han_22_ASD/DD/ID_discovery_cases-caseY83
Unknown
DLGAP2-AS1,DLGAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000119
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
FAM87A,FBXO25,ZNF596,TDRP,ERICH1,DLGAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000742
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,FAM87A,FBXO25,CLN8,KBTBD11,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000964
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FAM87A,FBXO25,ZNF596,TDRP,ERICH1,DLGAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001835
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR3674,MIR596,CLN8,KBTBD11-OT1,ARHGEF10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002506
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR3674,MIR596,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004235
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FAM87A,FBXO25,ZNF596,TDRP,ERICH1,DLGAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005196
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,FAM87A,FBXO25,CLN8,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2
kanduri_15_ASD_discovery_cases-case2973
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, LOC286083(dist=80805),DLGAP2(dist=64006)
krumm_13_ASD_discovery_cases-case11196.p1
Maternal
Simplex
Not segregated
ZNF596
krumm_15_ASD_discovery_cases-case11196.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ZNF596
krumm_15_ASD_discovery_cases-case12041.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
FBXO25
krumm_15_ASD_discovery_cases-case12573.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case13038.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case13487.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
krumm_15_ASD_discovery_cases-case13792.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ZNF596
krumm_15_ASD_discovery_cases-case13914.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
KBTBD11-OT1,ARHGEF10
krumm_15_ASD_discovery_cases-case14240.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ZNF596
kushima_18_SCZ_discovery_cases-caseSCZ1732
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
DLGAP2
kushima_22_BPD_discovery_cases-caseBD1995
qRT-PCR
Unknown
DLGAP2
kushima_22_SCZ_discovery_cases-caseSCZ1732
qRT-PCR
Unknown
DLGAP2
kushima_22_SCZ_discovery_cases-caseSCZ1929
qRT-PCR
Unknown
DLGAP2
leite_22_DD/ID_discovery_cases-case028
Maternal
CLN8,CLN8-AS1,KBTBD11-OT1,DLGAP2
levy_11_ASD_discovery_cases-11275.p1
Maternal
Simplex
Segregated
FBXO25,TDRP
marshall_08_ASD_discovery_cases-SK0262-003
qPCR, qmPCR
De novo
Simplex
NA
DLGAP2-AS1,DLGAP2
mosca_16_DCD_discovery_cases-case117404
Unknown
Unknown
Unknown
DLGAP2
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_2-DLGAP2
Unknown
TDRP,ZNF596,FAM87A,ERICH1,OR4F21,RPL23AP53,DLGAP2-AS1,WBP1LP3,SEPTIN14P8,DLGAP2,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedup(8p)_2
Unknown
TDRP,ZNF596,FAM87A,ERICH1,OR4F21,RPL23AP53,WBP1LP3,SEPTIN14P8,DLGAP2,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_50
Unknown
CLN8,TDRP,ZNF596,FAM87A,ERICH1,MIR596,MIR3674,DLGAP2-AS1,KBTBD11-OT1,DLGAP2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_51
Unknown
CLN8,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP53,MIR596,MIR3674,DLGAP2-AS1,KBTBD11-OT1,DLGAP2,KBTBD11,ARHGEF10,FBXO25
pfundt_16_nonNDD_discovery_cases-case115
MLPA or MAQ
MIR3674,MIR596,CLN8,KBTBD11-OT1,ARHGEF10
pinto_10_ASD_discovery_cases-case5225_3
Agilent1M-Paternal
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5290_3
qPCR-Denovo,Affy500K(MarshallAJHG2008),Agilent1M
De novo
Multiplex
Not segregated
DLGAP2
pinto_10_ASD_discovery_cases-case5368_3
Agilent1M
paternal
NA
NA
poultney_13_ASD_discovery_cases-case98HI0158A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case98HI0555A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case99HI1083A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FAM87A,FBXO25,ZNF596,TDRP,ERICH1
prasad_12_ASD_discovery_cases-case48301L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case68609
Unknown
Unknown
Unknown
DLGAP2,LOC286083
reis_17_ASD/ID_discovery_cases-case1
MLPA, FISH
De novo
Multiplex
Segregated
RPL23AP53,FAM87A,FBXO25,ZNF596,TDRP,ERICH1,DLGAP2
reis_17_ASD/ID_discovery_cases-case2
MLPA, FISH
De novo
Multiplex
Segregated
RPL23AP53,FAM87A,FBXO25,ZNF596,TDRP,ERICH1,DLGAP2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-097
qPCR
Unknown
Unknown
Unknown
FAM87A,FBXO25,TDRP
sanders_11_ASD_discovery_cases-11051.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11053.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11188.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11275.p1
Maternal
Simplex (quad-proband matched)
Segregated
FBXO25,TDRP
sanders_11_ASD_discovery_cases-11359.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11372.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11473.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11573.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11599.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11610.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11722.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DLGAP2
sanders_11_ASD_discovery_cases-11798.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11841.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12028.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FBXO25
sanders_11_ASD_discovery_cases-12099.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12113.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12170.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12261.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KBTBD11-OT1,ARHGEF10
sanders_11_ASD_discovery_cases-12315.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12351.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12480.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12536.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12573.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12671.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13038.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sansovic_17_DD/ID/ASD_discovery_cases-case53
Unknown
DLGAP2
sansovic_17_DD/ID/ASD_discovery_cases-case53
Unknown
DLGAP2-AS1,DLGAP2
soueid_16_ASD_discovery_cases-caseBAK40
De novo
Simplex
ERICH1,DLGAP2
werling_19_ASD_discovery_cases-caseA107
Unknown
ERICH1,DLGAP2
woodbury-smith_20_ASD_discovery_cases-case1-0627-003
qPCR, TaqMan, and/or visualization of bam files
Paternal
Multiplex
Not segregated
MIR3674,MIR596,CLN8,DLGAP2-AS1,ARHGEF10,DLGAP2
woodbury-smith_20_ASD_discovery_cases-case1-0627-004
qPCR, TaqMan, and/or visualization of bam files
Paternal
Multiplex
Not segregated
MIR3674,MIR596,CLN8,DLGAP2-AS1,ARHGEF10,DLGAP2
woodbury-smith_20_ASD_discovery_cases-case1-0627-006
qPCR, TaqMan, and/or visualization of bam files
Paternal
Multiplex
Not segregated
MIR3674,MIR596,CLN8,DLGAP2-AS1,ARHGEF10,DLGAP2
yin_16_ASD_discovery_cases-case294
Unknown
Unknown
Unknown
DLGAP2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0262-003
RT-qPCR or WGS
De novo
DLGAP2-AS1,DLGAP2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0627-003
RT-qPCR or WGS
Paternal
MIR3674,MIR596,CLN8,DLGAP2-AS1,ARHGEF10,DLGAP2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0627-004
RT-qPCR or WGS
Paternal
MIR3674,MIR596,CLN8,DLGAP2-AS1,ARHGEF10,DLGAP2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0627-006
RT-qPCR or WGS
Paternal
MIR3674,MIR596,CLN8,DLGAP2-AS1,ARHGEF10,DLGAP2
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023364_
Unknown
engchuan_15_ASD_discovery_controls-control110036024867_
Unknown
engchuan_15_ASD_discovery_controls-controlB159476_1007873588
Unknown
DLGAP2
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
Unknown
engchuan_15_ASD_discovery_controls-controlB338193_1007852606
Unknown
engchuan_15_ASD_discovery_controls-controlB366713_1007844576
Unknown
engchuan_15_ASD_discovery_controls-controlB488132_1007853404
Unknown
FAM87A
engchuan_15_ASD_discovery_controls-controlB519248_1007840750
Unknown
engchuan_15_ASD_discovery_controls-controlB703785_1007873472
Unknown
engchuan_15_ASD_discovery_controls-controlB742758_1007875311
Unknown
RPL23AP53,ZNF596
engchuan_15_ASD_discovery_controls-controlB749532_1007845879
Unknown
engchuan_15_ASD_discovery_controls-controlB834607_0067942618
Unknown
engchuan_15_ASD_discovery_controls-controlB957333_1007873686
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900290_900290
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900452_900452
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900457_900457
Unknown
ZNF596
engchuan_15_ASD_discovery_controls-controlHABC_900543_900543
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901088_901088
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901203_901203
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901219_901219
Unknown
ERICH1
engchuan_15_ASD_discovery_controls-controlHABC_901238_901238
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
Unknown
DLGAP2
engchuan_15_ASD_discovery_controls-controlHABC_902424_902424
Unknown
TDRP,ERICH1,DLGAP2
engchuan_15_ASD_discovery_controls-controlHABC_902629_902629
Unknown
MIR3674,CLN8,KBTBD11-OT1
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
Unknown
ZNF596
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
Unknown
ERICH1
kanduri_15_ASD_discovery_controls-control_split1399
Unknown
KBTBD11,MYOM2
krumm_13_ASD_discovery_controls-control11196.s1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
FAM87A,FBXO25,ZNF596
krumm_13_ASD_discovery_controls-control12727.s1
Paternal
Simplex
KBTBD11,KBTBD11-OT1,ARHGEF10
krumm_15_ASD_discovery_controls-control11227.s1
Illumina 1M
Paternal
MIR3674,MIR596,CLN8,KBTBD11-OT1
krumm_15_ASD_discovery_controls-control12261.s1
Illumina 1MDuo
Maternal
KBTBD11-OT1,ARHGEF10
krumm_15_ASD_discovery_controls-control13123.s1
1M-Duov3
Paternal
FAM87A,FBXO25,ZNF596
krumm_15_ASD_discovery_controls-control13487.s1
1M-Duov3
Paternal
levy_11_ASD_discovery_controls-12791.s1
Paternal
Simplex
NA
RPL23AP53,FAM87A,FBXO25,ZNF596
poultney_13_ASD_discovery_controls-control04C32411A
Unknown
KBTBD11,KBTBD11-OT1,ARHGEF10
poultney_13_ASD_discovery_controls-control04C36383A
Unknown
FAM87A,FBXO25,ZNF596
poultney_13_ASD_discovery_controls-control05C42353
Unknown
sanders_11_ASD_discovery_controls-11047.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11053.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11208.s1
Maternal
Simplex (quad)
NA
TDRP
sanders_11_ASD_discovery_controls-11227.s1
Paternal
Simplex (quad)
NA
MIR3674,MIR596,CLN8,KBTBD11-OT1
sanders_11_ASD_discovery_controls-11372.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11453.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11520.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11552.s1
Maternal
Simplex (quad)
NA
KBTBD11
sanders_11_ASD_discovery_controls-11573.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11599.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11673.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11798.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12041.s1
Maternal
Simplex (quad)
NA
FBXO25
sanders_11_ASD_discovery_controls-12113.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12187.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
KBTBD11-OT1,ARHGEF10
sanders_11_ASD_discovery_controls-12962.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available