20p12.1CNV Type: Deletion-Duplication
Largest CNV size: 602557 bp
Statistics Box:
Number of Reports: 43
Number of Reports: 43
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.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion-Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
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.
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
333892
1
0
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
235940
2
0
2
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
23296
1
0
1
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
147884
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
34075
3
0
3
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
163673
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
42000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
594076
32
4
36
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
217085
1
0
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
610920
3
2
5
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
111208
5
0
5
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.
653400
2
0
2
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
589000
2
0
2
gorker_18_ASD_discovery_cases
Individuals living in the Trakya region of Turkey with a pre-diagnosis of ASD who were referred to the Trakya University Child and Adolescent Psychiatry Department between January 2015-December 2015
53
All cases were diagnosed with ASD according to DSM-V and were further assessed using the Childhood Autism Rating Scales (CARS); 14 cases were comorbid with intellectual disability, 16 cases were comorbid with ADHD (assessed by the Conners Parent Rating Scale-Revised Short/CPRS-RS)
Mean age, 9.2 years
74.0% Male
175730
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
173047
1
0
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
152000
1
0
1
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
557914
1
2
3
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
801941
3
2
5
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
111513
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
12475
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
290191
1
1
2
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
146107
2
0
2
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
219975
2
0
2
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
146108
2
0
2
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
341134
4
0
4
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
219976
4
0
4
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
600000
0
2
2
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
100000
1
1
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
597386
1
0
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
60416
2
0
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
640000
2
0
2
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
55485
1
0
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
185600
2
0
2
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
22790
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
579000
2
1
3
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
285145
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
403052
8
1
9
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
79297
2
2
4
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
196833
3
0
3
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
602557
73
3
76
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
306000
1
0
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
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
1340914
0
1
1
wang_18_TS_replication_cases
Probands from 120 trio families not previously screened by whole-exome sequencing in the discovery cohort
120
Probands diagnosed with Tourette syndrome
N/A
N/A
179514
1
0
1
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
9000
1
0
1
xu_08_WAGR/ASD/DD/ID_discovery_cases
Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
31
All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
Range, 3-46 yrs.
45.16% Male
184200
1
0
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
237258
2
1
3
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
60000
0
1
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
150754
4
1
5
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
430296
37
4
41
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.
653400
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
196980
3
0
3
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
10993
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
10993
0
2
2
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
249679
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
425267
1
0
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
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.
112036
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
79297
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.
349312
42
4
46
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
306000
1
0
1
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
9000
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
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
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
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
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
gorker_18_ASD_discovery_cases
Turkish
aCGH
Agilent SurePrint G3 8x60K
N/A
Agilent Feature Extraction v.12.0.1.1, Agilent Cytogenomics v.2.9.2.4
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
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_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_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
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
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
qPCR
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
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
wang_18_TS_replication_cases
N/A
Exome Array
Illumina HumanOmniExpressExome-8 v.1
PennCNV
Illumina GenomeStudio, PennCNV
None
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
xu_08_WAGR/ASD/DD/ID_discovery_cases
N/A
aCGH
Agilent 4x44K, custom Agilent array
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
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
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
annunziata_21_ASD_discovery_cases-caseIB210
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
14124760
14458651
333892
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_cases-caseAB114
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
15036594
15107939
71346
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_cases-caseAB81
N/A
M
ASD
Clinical diagnosis of high-functioning PDD. PDD on ADOS; mild receptive language disorder
Normal IQ on WPPSI (TIQ108)
15048316
15284255
235940
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseSSC08218
N/A
M
ASD
Case from SSC cohort
15021112
15044408
23297
GRCh38
Deletion
Yes
chehbani_22_ASD_discovery_cases-case18
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
Intellectual disability.
14843725
14991608
147884
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case284
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
14818451
14843785
25335
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case352
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
14818451
14843785
25335
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case431
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
14794266
14828340
34075
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU001505
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
14863051
15026724
163673
Unknown
Deletion
No
egger_14_ASD_discovery_cases-caseA70
N/A
N/A
ASD
Clinical profile N/A.
14801038
14843259
42222
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14107_1890
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14749245
14925213
175969
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14197_3210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14903655
14933932
30278
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14225_3590
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14704701
14891667
186967
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14259_3820
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14882326
15001313
118988
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14299_4200
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14742363
15001313
258951
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14379_4920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14757197
14960041
202845
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16053_1571164001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14669711
14874289
204579
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16097_1571153001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14357847
14444691
86845
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17035_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14944629
15155292
210664
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18158_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14568030
14618543
50514
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1951_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16708128
17302204
594077
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20003_1019001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14620231
14903655
283425
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20057_1290002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14759193
14836807
77615
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3194_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14762184
14826953
64770
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3425_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14899681
14960041
60361
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3473_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14784494
14960041
175548
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3541_2
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14886776
14950848
64073
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4017_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14716236
14792143
75908
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4043_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12822046
12909558
87513
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4142_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14841483
14885972
44490
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4157_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14690429
14742363
51935
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)
14835132
15190312
355181
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4242_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14697142
14784494
87353
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4427_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14777465
15096384
318920
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4440_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12822046
12909558
87513
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4441_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14783965
14930357
146393
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5061_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14891667
14950848
59182
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5244_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14849807
14960041
110235
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5335_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14617088
15020139
403052
GRCh38
Deletion
Yes
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)
14868013
15001313
133301
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5523_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13102471
13149449
46979
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6023_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15020139
15232647
212509
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6375_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14716236
14763259
47024
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6416_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14742363
14861740
119378
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8438_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14697142
14784494
87353
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)
14891667
14950848
59182
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000019
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S25
N/A
14771956
14989041
217086
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1143301
Autism
16616603
17227522
610920
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1158301
Autism
16643386
17227522
584137
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1257301
Autism
14729684
14785965
56282
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1830302
Autism
14985615
15019428
33814
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1830303
Autism
14985615
15019428
33814
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU001505
Autism
14913823
15025030
111208
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU008504
Autism
14654616
14712611
57996
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU008505
Autism
14645386
14712611
67226
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0934303
Autism
14725701
14815422
89722
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0934304
Autism
14725701
14815422
89722
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si20
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 123; Non-verbal IQ, 101.
12729336
13382736
653401
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si227
7
M
Autism
ADOS score: 8. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 38; Non-verbal IQ, 57.
14894913
15196817
301905
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11986.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
12761353
13351353
590001
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13624.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
14651354
15061354
410001
GRCh38
Deletion
No
gorker_18_ASD_discovery_cases-case29
8 yrs.
M
ASD, ADHD
ASD and ADHD
14719394
14895124
175731
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D1738
4 mos. 24 days
M
Developmental delay
14537717
14710763
173047
GRCh38
Deletion
No
hnoonual_17_ASD_discovery_cases-caseRA39
N/A
M
ASD and intellectual disability
No additional clinical features
Intellectual disability
14581381
14733811
152431
GRCh38
Deletion
No
husson_20_ASD_discovery_cases-case412
13 yrs.
M
ASD
Diagnosis of Asperger syndrome
13528383
14086296
557914
GRCh38
Triplication
Yes
husson_20_ASD_discovery_cases-case46
12 yrs.
M
ASD
Diagnosis of Asperger syndrome
14684810
14684988
179
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000982
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14453727
14818511
364785
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002672
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
13599877
13834151
234275
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003772
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12776078
13349316
573239
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004822
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14117134
14307669
190536
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005299
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
13651844
14453786
801943
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3073
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.
14772789
14884301
111513
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case13418.p1
N/A
M
ASD
ASD proband from SSC quad family 13418. SRS score of 61.
Full-scale IQ (FSIQ) score of 135.
13876037
13888512
12476
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11986.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
13009267
13299459
290193
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13418.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
13876037
13888512
12476
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0172
22 yrs.
M
ASD, ADHD, ID, epilepsy/seizures
Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Family history: negative.
Intellectual disability (IQ < 70)
14490624
14573076
82453
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0391
10 yrs.
M
ASD, ADHD
Developmental milestones: motor delay. Motor and musculoskeletal evaluation: motor coordination deficits, motor tics. Behavioral/psychiatric evaluation: ADHD, tic disorders. Family history: negative.
IQ > 70
15307783
15453889
146107
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0052
31 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
14656734
14876708
219975
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2312
67 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
14631584
14707775
76192
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0172
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
14490623
14573076
82454
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD0391
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
15307782
15453889
146108
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0643
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
14524304
14749977
225674
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1085
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
14681250
15022383
341134
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1261
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
14933044
15220689
287646
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1634
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
14646531
14725206
78676
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0052
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
14656733
14876708
219976
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2312
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
14631583
14707775
76193
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2692
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
14613901
14730003
116103
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3253
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
14646531
14832765
186235
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU1143301
N/A
M
ASD
16714355
17299355
585001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1158301
N/A
M
ASD
16708355
17299355
591001
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-case10A603
NA
M
Epilepsy
Phenotype: s-CSWSS . Seizure Characteristics: GTCS, absences. Autistic features: No. ADHD features: Yes. Other features: Left central/occipital PMG.
Initial cognitive development: Delayed. Cognitive regression: No. Verbal IQ 74, performance IQ 82 (at 15 years of age).
14510651
14610487
99837
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-case12-522
NA
M
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: Absences, PS with dysarthria. Autistic features: No. ADHD features: No. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 112, performance IQ 107 (at 12 years of age).
14415151
14483861
68711
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11986.p1
NA
M
ASD
NA
NA
12760195
13357580
597386
GRCh38
Deletion
No
lintas_17_ASD_discovery_cases-case11.1
N/A
N/A
Autism
No additional clinical information available
14732381
14775806
43426
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case7.1
N/A
N/A
Autism
No additional clinical information available
14843726
14904142
60417
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case73
9 yrs.
M
Dysmorphic features and ocular anomalies
Birth history: born at 35 weeks gestation following a pregnancy marked by steroid therapy. Developmental milestones: no motor or language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: ocular anomalies. Dysmorphic features: short palpebral fissures, micro/anophtalmia. 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)
14719394
15184834
465441
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown112
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)
14323777
14963568
639792
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0335-003
NA
F
ASD
NA
NA
15027084
15082568
55485
GRCh38
Deletion
Yes
morrow_08_ASD_discovery_cases-case7301
NA
ASD
NA
NA
14606000
14792000
185600
Unknown
Deletion
No
morrow_08_ASD_discovery_cases-case7801
NA
ASD
NA
NA
14963000
15108000
21800
Unknown
Deletion
No
mosca_16_DCD_discovery_cases-case103303
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
14629643
14652432
22790
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case4
4 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, behavioral problems, hyperactivity, atrophy of hippocampus on MRI
14782337
15197082
414746
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case472
6 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: low set ears, hypertelorism, antimogolodi palpebral fissures, broad base to nose, short philtrum, high arched palate
ID
14868855
15153570
284716
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case477
5 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria
ID
13630079
14209945
579867
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
N/A
M
ASD and intellectual disability
Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
Mild intellectual disability (TIQ score of 64); memory impairment
14775747
15060892
285146
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5021_5
NA
M
Autism
Below average language (<1%ile), no epilepsy, no dysmorphic features
Average nonverbal IQ (55%ile)
15071071
15163160
92090
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5061_3
NA
M
ASD
No epilepsy, premature ( 28 wks), brain dysfunction, soft neurological signs, amblyopia, hair whorls, 5th finger clinodactyly, long 3rd toe, toe syndactyly
Below average IQ (<1%ile)
14891667
14950848
59182
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5066_4
NA
M
Autism
Language delay, no epilepsy, malformed ears
Average IQ
14818398
14879494
61097
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5244_3
NA
M
Autism
Average language (55%ile), apraxia, possible seizures, microcephaly
Above average nonverbal IQ (95%ile)
14849807
14960041
110235
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5250_4
NA
M
Autism
No epilepsy, adherent ear lobes
Below average IQ (<1%ile)
14801038
14845141
44104
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5335_3
NA
M
Autism
Mental retardation
MR (IQ Leiter = 36)
14617088
15020139
403052
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5368_3
NA
M
ASD
NA
NA
14868013
15001313
133301
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5523_3
NA
F
ASD
NA
NA
13102471
13149449
46979
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6023_3
NA
M
Autism
High-functioning autism, language delay, normal physical exam, no epilepsy
Normal IQ
15020139
15232647
212509
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case122712L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
13026945
13082320
55376
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case154269L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
14274947
14300558
25612
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case67839
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
12760667
12839963
79297
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case80022
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16611545
16620455
8911
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1600-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
14928095
14969117
41023
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-178
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
14781064
14903655
122592
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-069
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
14777465
14974297
196833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11009.p1
9
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
15082304
15122954
40651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11040.p1
4.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 67; verbal IQ, 64
14813715
14909565
95851
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11057.p1
8.7
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
14757197
14759193
1997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
15330785
15338121
7337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11075.p1
6.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
14938168
15032863
94696
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11101.p1
5.2
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
14868013
15208952
340940
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11122.p1
7.8
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
15071071
15180106
109036
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
14903655
14934063
30409
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11145.p1
5.9
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
15330785
15338121
7337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
14792143
14802096
9954
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
14545518
14583273
37756
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11256.p1
11.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11404.p1
7.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 82
14801038
14859856
58819
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11415.p1
11.6
M
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
14891667
14956289
64623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
12483434
12488857
5424
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11468.p1
10.7
M
Aspergers
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
14801038
14849807
48770
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
17580396
17587674
7279
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
14749245
14816926
67682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11568.p1
13.5
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
16586557
16607950
21394
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11568.p1
13.5
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
15330785
15338121
7337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
14929612
14940960
11349
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11828.p1
5.5
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11924.p1
7.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 74
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
12638379
12657049
18671
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
12819919
12909558
89640
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11970.p1
5.3
M
Autism
NA
Full-scale IQ, 150; non-verbal IQ, 159; verbal IQ, 130
14882326
14903655
21330
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11982.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
12760475
13363032
602558
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12057.p1
12.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12072.p1
15.6
F
Autism
NA
Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
15330785
15338121
7337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
14774096
14849807
75712
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
12483434
12488857
5424
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
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12192.p1
6.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12255.p1
4.1
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
14960041
14985177
25137
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12265.p1
6.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
15056969
15064766
7798
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
15330785
15338121
7337
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12274.p1
5.4
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
14777465
14836807
59343
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12339.p1
15.5
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
14799673
14859792
60120
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12354.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
14945687
14977989
32303
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12359.p1
9.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12369.p1
7.3
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
14799673
14849807
50135
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12383.p1
9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 88; verbal IQ, 90
14945687
15050398
104712
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12392.p1
7
M
ASD
NA
Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12447.p1
4.6
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 60; verbal IQ, 45
14687597
14822808
135212
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12507.p1
18
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
14891667
14947216
55550
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12587.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
16586557
16604669
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12628.p1
11.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
14799673
14845141
45469
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12629.p1
4.1
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12640.p1
4.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 118; verbal IQ, 99
15056969
15120818
63850
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12652.p1
8.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
14849807
15014697
164891
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
12483434
12488857
5424
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
16454852
16470997
16146
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
14556162
14558218
2057
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12782.p1
13.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 76; verbal IQ, 77
15190312
15226818
36507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12852.p1
5.1
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 83
14450817
14468538
17722
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
15892325
15908146
15822
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12964.p1
6.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
15330785
15343527
12743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13007.p1
13.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13007.p1
13.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
14792143
14800139
7997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
14783965
14857319
73355
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13144.p1
6.5
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 119; verbal IQ, 95
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
16587484
16607663
20180
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13166.p1
9.1
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
15330785
15343527
12743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
16097683
16101675
3993
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13226.p1
8.7
M
ASD
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
15330785
15343527
12743
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK39
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
14807708
15113290
305583
GRCh38
Deletion
No
streata_22_ASD/DD/ID_discovery_cases-case102
NA
M
Intellectual disability
Speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
15868687
17209600
1340914
GRCh38
Duplication
No
wang_18_TS_replication_cases-case25139.p1
N/A
N/A
Tourette syndrome
No additional clinical information available
14742363
14921876
179514
GRCh38
Deletion
No
wintle_10_ASD_discovery_cases-AN09402
11
M
Autism
Suspected autism
15831848
15840820
8973
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF14a
12 yrs.
F
WAGR syndrome, ASD, ID, and seizures
Autism, anxiety, ADHD, high tolerance to pain, obsessive-compulsive, seizures
Intellectual disability
14151031
14335261
184231
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0415-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
15950929
15972857
21929
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0072-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
15021566
15258823
237258
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD1115-0625-1325-3
N/A
M
ADHD and OCD
Primary diagnosis: OCD. Additional phenotype(s): ADHD
14629311
14701179
71869
GRCh38
Deletion
Yes
zhou_19_ASD_discovery_cases-caseAU035503
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
13993500
14053496
59997
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
bacchelli_20_ASD_discovery_controls-control10026
N/A
F
Control
Control
15073790
15128962
55173
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control10081
N/A
F
Control
Control
15047067
15107939
60873
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control10112
N/A
F
Control
Control
14588112
14640345
52234
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control20121
N/A
F
Control
Control
14534174
14595802
61629
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_controls-control20138
N/A
F
Control
Control
13854161
14004914
150754
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036001873_
N/A
N/A
Control
No previous psychiatric history
14357847
14444691
86845
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036014967_
N/A
N/A
Control
No previous psychiatric history
14831886
14930357
98472
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023109_
N/A
N/A
Control
No previous psychiatric history
14899681
15039372
139692
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB149228_1007853581
N/A
N/A
Control
No previous psychiatric history
14687597
14778523
90927
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB228990_1007873300
N/A
N/A
Control
No previous psychiatric history
14872404
14903655
31252
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB269978_1007875858
N/A
N/A
Control
No previous psychiatric history
14891667
14950848
59182
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
N/A
N/A
Control
No previous psychiatric history
14947216
15048316
101101
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
N/A
N/A
Control
No previous psychiatric history
13762651
13823455
60805
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB390299_1007840224
N/A
N/A
Control
No previous psychiatric history
12822046
12909558
87513
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB407301_1007871721
N/A
N/A
Control
No previous psychiatric history
14732534
14891667
159134
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB422760_1007840446
N/A
N/A
Control
No previous psychiatric history
15071071
15163160
92090
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB444871_1007853318
N/A
N/A
Control
No previous psychiatric history
14104654
14195343
90690
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB647111_1007846512
N/A
N/A
Control
No previous psychiatric history
15071071
15163160
92090
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB658740_1007854250
N/A
N/A
Control
No previous psychiatric history
12822046
12909558
87513
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB805034_1007875356
N/A
N/A
Control
No previous psychiatric history
14903655
15096384
192730
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB814504_1007872259
N/A
N/A
Control
No previous psychiatric history
14891667
14950848
59182
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB895793_1007844868
N/A
N/A
Control
No previous psychiatric history
15071071
15163160
92090
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB900846_1007844887
N/A
N/A
Control
No previous psychiatric history
14728805
15039372
310568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
N/A
N/A
Control
No previous psychiatric history
14826953
15257249
430297
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB928410_0067942587
N/A
N/A
Control
No previous psychiatric history
14687597
14777465
89869
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB995629_1007855005
N/A
N/A
Control
No previous psychiatric history
15050398
15112218
61821
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900090_900090
N/A
N/A
Control
No previous psychiatric history
14713781
14750949
37169
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900104_900104
N/A
N/A
Control
No previous psychiatric history
15020139
15122954
102816
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900174_900174
N/A
N/A
Control
No previous psychiatric history
13224691
13271197
46507
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900185_900185
N/A
N/A
Control
No previous psychiatric history
15173399
15309055
135657
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900211_900211
N/A
N/A
Control
No previous psychiatric history
15082304
15122954
40651
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900369_900369
N/A
N/A
Control
No previous psychiatric history
15104456
15147241
42786
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900504_900504
N/A
N/A
Control
No previous psychiatric history
14868013
14947216
79204
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900520_900520
N/A
N/A
Control
No previous psychiatric history
14713781
14750949
37169
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
N/A
N/A
Control
No previous psychiatric history
14927015
15116059
189045
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900818_900818
N/A
N/A
Control
No previous psychiatric history
14704701
15078236
373536
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900845_900845
N/A
N/A
Control
No previous psychiatric history
14822808
14915307
92500
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900877_900877
N/A
N/A
Control
No previous psychiatric history
12819919
12909558
89640
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900914_900914
N/A
N/A
Control
No previous psychiatric history
15045185
15109615
64431
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900948_900948
N/A
N/A
Control
No previous psychiatric history
14944629
15058869
114241
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900990_900990
N/A
N/A
Control
No previous psychiatric history
15027084
15161313
134230
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901245_901245
N/A
N/A
Control
No previous psychiatric history
14757197
14882326
125130
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902653_902653
N/A
N/A
Control
No previous psychiatric history
14849807
15098078
248272
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
N/A
N/A
Control
No previous psychiatric history
14725970
14969117
243148
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902688_902688
N/A
N/A
Control
No previous psychiatric history
14816926
15027824
210899
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902809_902809
N/A
N/A
Control
No previous psychiatric history
14831886
14895454
63569
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1079
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
14781684
14823472
41789
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1202
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
14925275
15122254
196980
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split267
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
14723009
14785705
62697
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control13418.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13418. SRS score of 46.
13877519
13888512
10994
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11350.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
13877519
13888512
10994
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13418.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
13877519
13888512
10994
GRCh38
Duplication
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON3377
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
14976615
15226293
249679
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11066.s3
NA
F
Control
NA
NA
14842926
15268192
425267
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C28137
Control
13661037
13773072
112036
Unknown
Duplication
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
15082304
15122954
40651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
14757197
14759193
1997
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
15330785
15338121
7337
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
14868013
15217325
349313
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11206.s1
8.3
F
Control (matched sibling)
NA
NA
14878264
14891667
13404
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11216.s1
6.4
M
Control (matched sibling)
NA
NA
16586557
16604669
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
14792143
14802096
9954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11239.s1
15.1
M
Control (matched sibling)
NA
NA
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11252.s1
11.4
M
Control (matched sibling)
NA
NA
14545518
14583273
37756
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11270.s1
4.2
M
Control (matched sibling)
NA
NA
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11415.s1
13.6
M
Control (matched sibling)
NA
NA
14891667
14960041
68375
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
12483434
12488857
5424
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11459.s1
14.3
M
Control (matched sibling)
NA
NA
15774221
15783700
9480
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
16586557
16596509
9953
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11644.s1
14.2
F
Control (matched sibling)
NA
NA
15330785
15338121
7337
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11828.s1
5.5
F
Control (matched sibling)
NA
NA
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11839.s1
4
F
Control (matched sibling)
NA
NA
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
12638379
12657049
18671
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
12819919
12901963
82045
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11933.s1
6.8
M
Control (matched sibling)
NA
NA
14726481
14836372
109892
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
14732534
14763259
30726
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
14801038
14845141
44104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11998.s1
6.8
M
Control (matched sibling)
NA
NA
14777465
14933932
156468
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12057.s1
14.3
F
Control (matched sibling)
NA
NA
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12099.s1
13.1
M
Control (matched sibling)
NA
NA
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
14903655
14934063
30409
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
14799673
14845141
45469
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12346.s1
15
M
Control (matched sibling)
NA
NA
14799673
14845141
45469
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12359.s1
6.3
F
Control (matched sibling)
NA
NA
16100187
16101675
1489
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12507.s1
26.1
F
Control (matched sibling)
NA
NA
14891667
14950848
59182
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12610.s1
8.8
F
Control (matched sibling)
NA
NA
12483434
12488857
5424
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12628.s1
13.6
F
Control (matched sibling)
NA
NA
14801038
14859856
58819
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
14849807
15014697
164891
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
14444691
14468538
23848
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
16454852
16470997
16146
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
14450817
14468538
17722
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12916.s1
12.3
M
Control (matched sibling)
NA
NA
14799779
14849807
50029
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12937.s1
18.9
M
Control (matched sibling)
NA
NA
15807354
15812477
5124
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
15330785
15343527
12743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13007.s1
19.8
F
Control (matched sibling)
NA
NA
14799673
14845141
45469
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13072.s1
8.7
F
Control (matched sibling)
NA
NA
15774221
15783700
9480
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
14783965
14849807
65843
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13144.s1
4.9
M
Control (matched sibling)
NA
NA
14801038
14845141
44104
GRCh38
Deletion
No
soueid_16_ASD_discovery_controls-control13
N/A
N/A
Control
14807708
15113290
305583
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB210
qPCR, FISH
Paternal
MACROD2,AIMP1P1,RNU6-228P,RN7SL864P,FLRT3
bacchelli_20_ASD_discovery_cases-caseAB114
Paternal
Simplex
MACROD2
bacchelli_20_ASD_discovery_cases-caseAB81
Paternal
Simplex
RNA5SP475,MACROD2
brandler_18_ASD_discovery_cases-caseSSC08218
SNP VCF
De novo
RNU6-1159P,RNU6-115P,MACROD2
chehbani_22_ASD_discovery_cases-case18
Unknown
Simplex
MACROD2,MACROD2-AS1
cucinotta_23_ASD_discovery_cases-case284
Maternal
MACROD2
cucinotta_23_ASD_discovery_cases-case352
Paternal
MACROD2
cucinotta_23_ASD_discovery_cases-case431
Unknown
MACROD2
davis_09_ASD_discovery_cases-AU001505
Unknown
Unknown
Unknown
MACRO2D
egger_14_ASD_discovery_cases-caseA70
Unknown
Unknown
MACROD2
engchuan_15_ASD_discovery_cases-case14107_1890
Unknown
RPS10P2,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case14197_3210
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case14225_3590
Unknown
RPS10P2,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case14259_3820
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case14299_4200
Unknown
RPS10P2,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case14379_4920
Unknown
RPS10P2,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case16053_1571164001
Unknown
RPS10P2,MACROD2
engchuan_15_ASD_discovery_cases-case16097_1571153001
Unknown
MACROD2
engchuan_15_ASD_discovery_cases-case17035_1
Unknown
RNU6-1159P,RNU6-115P,MACROD2
engchuan_15_ASD_discovery_cases-case18158_301
Unknown
MACROD2-IT1,MACROD2
engchuan_15_ASD_discovery_cases-case1951_301
Unknown
SNRPB2,RNU6-27P,RNU1-131P,OTOR,PCSK2
engchuan_15_ASD_discovery_cases-case20003_1019001
Unknown
RPS10P2,MACROD2-IT1,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case20057_1290002
Unknown
MACROD2
engchuan_15_ASD_discovery_cases-case3194_4
Unknown
MACROD2
engchuan_15_ASD_discovery_cases-case3425_3
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case3473_3
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case3541_2
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case4017_1
Unknown
RPS10P2,MACROD2
engchuan_15_ASD_discovery_cases-case4043_1
Unknown
LINC01722
engchuan_15_ASD_discovery_cases-case4142_1
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case4157_1
Unknown
MACROD2
engchuan_15_ASD_discovery_cases-case4239_1
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case4242_1
Unknown
RPS10P2,MACROD2
engchuan_15_ASD_discovery_cases-case4427_1
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case4440_1
Unknown
LINC01722
engchuan_15_ASD_discovery_cases-case4441_1
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case5061_3
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case5244_3
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case5335_3
De novo
RPS10P2,MACROD2-IT1,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case5368_3
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_cases-case5523_3
Unknown
SPTLC3
engchuan_15_ASD_discovery_cases-case6023_3
Unknown
RNU6-1159P,RNU6-115P,MACROD2
engchuan_15_ASD_discovery_cases-case6375_6
Unknown
RPS10P2,MACROD2
engchuan_15_ASD_discovery_cases-case6416_3
Unknown
RPS10P2,MACROD2
engchuan_15_ASD_discovery_cases-case8438_202
Unknown
RPS10P2,MACROD2
engchuan_15_ASD_discovery_cases-case9610_201
Unknown
MACROD2-AS1,MACROD2
fitzgerald_14_ASD/DD/ID_discovery_cases-case000019
De novo
Unknown
Unknown
MACROD2-AS1,MACROD2
gai_11_ASD_discovery_cases-AU1143301
Inherited
SNRPB2, OTOR, PCSK2
gai_11_ASD_discovery_cases-AU1158301
Inherited
SNRPB2, OTOR, PCSK2
gai_11_ASD_discovery_cases-AU1257301
Inherited
MACROD2 (intronic)
gai_11_ASD_discovery_cases-AU1830302
Inherited
MACROD2 (intronic)
gai_11_ASD_discovery_cases-AU1830303
Inherited
MACROD2 (intronic)
gai_11_ASD_replication_cases-AU001505
Inherited
MACROD2 (intronic)
gai_11_ASD_replication_cases-AU008504
Inherited
MACROD2 (intronic)
gai_11_ASD_replication_cases-AU008505
Inherited
MACROD2 (intronic)
gai_11_ASD_replication_cases-AU0934303
Inherited
MACROD2 (intronic)
gai_11_ASD_replication_cases-AU0934304
Inherited
MACROD2 (intronic)
girirajan_11_ASD_discovery_cases-Si20
Paternal
Simplex
LINC01723,LINC01722,SPTLC3,ISM1,ISM1-AS1
girirajan_11_ASD_discovery_cases-Si227
Unknown
Simplex
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
girirajan_13a_ASD_discovery_cases-11986.p1
Unknown
Simplex
Unknown
LINC01723,LINC01722,SPTLC3,ISM1,ISM1-AS1
girirajan_13a_ASD_discovery_cases-13624.p1
Unknown
Simplex
Unknown
RPS10P2,RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
gorker_18_ASD_discovery_cases-case29
Unknown
Unknown
Unknown
RPS10P2,MACROD2-AS1,MACROD2
han_22_ASD/DD/ID_discovery_cases-case16D1738
Unknown
MACROD2,MACROD2-IT1,RNF11P2
hnoonual_17_ASD_discovery_cases-caseRA39
Paternal
MACROD2-IT1,MACROD2
husson_20_ASD_discovery_cases-case412
ddPCR, QMPSF, or aCGH
Paternal
Simplex
Unknown
RNU6-278P,RPS3P1,NDUFAF5,ESF1,SEL1L2,TASP1,MACROD2
husson_20_ASD_discovery_cases-case46
ddPCR, QMPSF, or aCGH
Unknown (not maternal)
Familial
Unknown
MACROD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000982
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNF11P2,RPS10P2,MACROD2-IT1,MACROD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002672
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NDUFAF5,ESF1,TASP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003772
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01723,LINC01722,SPTLC3,ISM1,ISM1-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004822
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AIMP1P1,RN7SL864P,MACROD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005299
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-278P,RPS3P1,AIMP1P1,RN7SL864P,NDUFAF5,FLRT3,RNU6-228P,ESF1,SEL1L2,MACROD2
kanduri_15_ASD_discovery_cases-case3073
Paternal
Unknown
Unknown
MACROD2-AS1 (non-coding RNA, exonic)
krumm_13_ASD_discovery_cases-case13418.p1
Maternal
Simplex
Not segregated
SEL1L2
krumm_15_ASD_discovery_cases-case11986.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SPTLC3,ISM1,ISM1-AS1
krumm_15_ASD_discovery_cases-case13418.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SEL1L2
kushima_18_ASD_discovery_cases-caseASD0172
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
Simplex
Unknown
RNF11P2,MACROD2-IT1,MACROD2
kushima_18_ASD_discovery_cases-caseASD0391
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
Simplex
Unknown
MACROD2
kushima_18_SCZ_discovery_cases-caseSCZ0052
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
RPS10P2,MACROD2
kushima_18_SCZ_discovery_cases-caseSCZ2312
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
MACROD2-IT1,MACROD2
kushima_22_ASD_discovery_cases-caseASD0172
qRT-PCR
Unknown
MACROD2,MACROD2-IT1,RNF11P2
kushima_22_ASD_discovery_cases-caseASD0391
qRT-PCR
Unknown
MACROD2
kushima_22_BPD_discovery_cases-caseBD0643
qRT-PCR
Unknown
MACROD2,MACROD2-IT1,RNF11P2
kushima_22_BPD_discovery_cases-caseBD1085
qRT-PCR
Unknown
MACROD2,RPS10P2,MACROD2-AS1,RNU6-1159P
kushima_22_BPD_discovery_cases-caseBD1261
qRT-PCR
Unknown
MACROD2,RNU6-115P,RNU6-1159P
kushima_22_BPD_discovery_cases-caseBD1634
qRT-PCR
Unknown
MACROD2
kushima_22_SCZ_discovery_cases-caseSCZ0052
qRT-PCR
Unknown
MACROD2,RPS10P2
kushima_22_SCZ_discovery_cases-caseSCZ2312
qRT-PCR
Unknown
MACROD2,MACROD2-IT1
kushima_22_SCZ_discovery_cases-caseSCZ2692
qRT-PCR
Unknown
MACROD2,MACROD2-IT1
kushima_22_SCZ_discovery_cases-caseSCZ3253
qRT-PCR
Unknown
MACROD2,RPS10P2
leppa_16_ASD_discovery_cases-AU1143301
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
SNRPB2,RNU6-27P,RNU1-131P,OTOR,PCSK2
leppa_16_ASD_discovery_cases-AU1158301
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
SNRPB2,RNU6-27P,RNU1-131P,OTOR,PCSK2
lesca_12_EP_discovery_cases-case10A603
qPCR
Paternal
Unknown
Unknown
RNF11P2,MACROD2-IT1,MACROD2
lesca_12_EP_discovery_cases-case12-522
qPCR
Paternal
Unknown
Unknown
MACROD2
levy_11_ASD_discovery_cases-11986.p1
Paternal
Simplex
Segregated
LINC01723,LINC01722,SPTLC3,ISM1,ISM1-AS1
lintas_17_ASD_discovery_cases-case11.1
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
RPS10P2,MACROD2
lintas_17_ASD_discovery_cases-case7.1
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
MACROD2-AS1,MACROD2
maini_18_ASD/DD/ID_discovery_cases-case73
Paternal
Simplex
Unknown
RPS10P2,RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
maini_18_ASD/DD/ID_discovery_cases-case_unknown112
Paternal
Unknown
Unknown
RNF11P2,RPS10P2,FLRT3,RNU6-228P,MACROD2-IT1,MACROD2-AS1,MACROD2
marshall_08_ASD_discovery_cases-SK0335-003
qPCR, qmPCR
Unknown
NA
NA
MACROD2
morrow_08_ASD_discovery_cases-case7301
Paternal
NA
NA
C20orf133
morrow_08_ASD_discovery_cases-case7801
Paternal
NA
NA
C20orf133
mosca_16_DCD_discovery_cases-case103303
Unknown
Unknown
Unknown
MACROD2-IT1,MACROD2
oikonomakis_16_ASD_discovery_cases-case4
Paternal
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
oikonomakis_16_ASD_discovery_cases-case472
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
oikonomakis_16_ASD_discovery_cases-case477
Unknown
RNU6-278P,RPS3P1,AIMP1P1,NDUFAF5,ESF1,SEL1L2,TASP1,MACROD2
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
Paternal
Multi-generational
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
pinto_10_ASD_discovery_cases-case5021_5
qPCR
paternal
Multiplex
Unknown
MACROD2
pinto_10_ASD_discovery_cases-case5061_3
qPCR-Maternal,Agilent1M
maternal
Multiplex
Not segregated
MACROD2-AS1,MACROD2
pinto_10_ASD_discovery_cases-case5066_4
qPCR
maternal
Multiplex
Unknown
MACROD2 intronic
pinto_10_ASD_discovery_cases-case5244_3
qPCR-Paternal
paternal
Simplex
NA
MACROD2-AS1,MACROD2
pinto_10_ASD_discovery_cases-case5250_4
qPCR
paternal
Multiplex
Unknown
MACROD2
pinto_10_ASD_discovery_cases-case5335_3
Agilent1M
De novo
Simplex
NA
RPS10P2,MACROD2-IT1,MACROD2-AS1,MACROD2
pinto_10_ASD_discovery_cases-case5368_3
Agilent1M
maternal
NA
NA
MACROD2-AS1,MACROD2
pinto_10_ASD_discovery_cases-case5523_3
Agilent1M
paternal
NA
NA
SPTLC3
pinto_10_ASD_discovery_cases-case6023_3
qPCR-Maternal
maternal
Multiplex (sib with PDD-NOS)
Segregated
RNU6-1159P,RNU6-115P,MACROD2
prasad_12_ASD_discovery_cases-case122712L
Unknown
Unknown
Unknown
SPTLC3
prasad_12_ASD_discovery_cases-case154269L
Unknown
Unknown
Unknown
MACROD2
prasad_12_ASD_discovery_cases-case67839
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case80022
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1600-0
Not tested by qPCR
Unknown
Unknown
Unknown
MACROD2-AS1,MACROD2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-178
Not tested by qPCR
Unknown
Unknown
Unknown
MACROD2-AS1,MACROD2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-069
Not tested by qPCR
Unknown
Unknown
Unknown
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_cases-11009.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11040.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_cases-11057.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS10P2,MACROD2
sanders_11_ASD_discovery_cases-11073.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11075.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-1159P,RNU6-115P,MACROD2
sanders_11_ASD_discovery_cases-11101.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_cases-11122.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-11133.p1
Paternal
Simplex (trio)
NA
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_cases-11145.p1
Both parents
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-11229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11252.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNF11P2,MACROD2-IT1,MACROD2
sanders_11_ASD_discovery_cases-11256.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11404.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11415.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_cases-11447.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11466.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11468.p1
Paternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-11540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DSTN
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS10P2,MACROD2
sanders_11_ASD_discovery_cases-11568.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPLP0P1
sanders_11_ASD_discovery_cases-11568.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11794.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11828.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11920.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11924.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11962.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11962.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01722
sanders_11_ASD_discovery_cases-11970.p1
Maternal
Simplex (trio)
NA
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_cases-11982.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-11986.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01723,LINC01722,SPTLC3,ISM1,ISM1-AS1
sanders_11_ASD_discovery_cases-12057.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12072.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
MACROD2
sanders_11_ASD_discovery_cases-12119.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12170.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12192.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12208.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12255.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-12265.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12266.p1
Paternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12274.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12330.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12332.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12339.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-12354.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12359.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12369.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-12383.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-1159P,RNU6-115P,MACROD2
sanders_11_ASD_discovery_cases-12392.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12447.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
RPS10P2,MACROD2
sanders_11_ASD_discovery_cases-12494.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12507.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_cases-12587.p1
Paternal
Simplex (trio)
NA
RPLP0P1
sanders_11_ASD_discovery_cases-12628.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-12629.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12640.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12652.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_cases-12656.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12691.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF16B
sanders_11_ASD_discovery_cases-12695.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2-IT1,MACROD2
sanders_11_ASD_discovery_cases-12757.p1
Maternal
Simplex (trio)
NA
MACROD2
sanders_11_ASD_discovery_cases-12782.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-12852.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-12921.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-12956.p1
Unknown
Simplex (quad-proband matched)
Segregated
MACROD2
sanders_11_ASD_discovery_cases-12964.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-12972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13007.p1
Both parents
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-13007.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-13136.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-13144.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-13152.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13166.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MACROD2
sanders_11_ASD_discovery_cases-13183.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13226.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MACROD2
soueid_16_ASD_discovery_cases-caseBAK39
Paternal
Simplex
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
streata_22_ASD/DD/ID_discovery_cases-case102
Unknown
KIF16B,OTOR,RPLP0P1,MACROD2,PPIAP17,RNU6-27P,SNRPB2,RNU1-131P
wang_18_TS_replication_cases-case25139.p1
CNV validation not attempted
De novo
RPS10P2,MACROD2-AS1,MACROD2
wintle_10_ASD_discovery_cases-AN09402
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
MACROD2
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF14a
Unknown
Unknown
RN7SL864P,FLRT3,MACROD2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0415-004
RT-qPCR or WGS
Unknown
MACROD2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0072-003
RT-qPCR or WGS
Unknown
RNU6-1159P,RNU6-115P,MACROD2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD1115-0625-1325-3
RT-qPCR or WGS
Unknown
MACROD2-IT1,MACROD2
null
zhou_19_ASD_discovery_cases-caseAU035503
qPCR
Unknown
RPS3P1,SEL1L2,MACROD2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10026
Unknown
MACROD2
bacchelli_20_ASD_discovery_controls-control10081
Unknown
MACROD2
bacchelli_20_ASD_discovery_controls-control10112
Unknown
MACROD2-IT1,MACROD2
bacchelli_20_ASD_discovery_controls-control20121
Unknown
RNF11P2,MACROD2-IT1,MACROD2
bacchelli_20_ASD_discovery_controls-control20138
Unknown
RNU6-278P,RPS3P1,SEL1L2,MACROD2
engchuan_15_ASD_discovery_controls-control110036001873_
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-control110036014967_
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-control110036023109_
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlB149228_1007853581
Unknown
RPS10P2,MACROD2
engchuan_15_ASD_discovery_controls-controlB228990_1007873300
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlB269978_1007875858
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
Unknown
RNU6-1159P,RNU6-115P,MACROD2
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
Unknown
NDUFAF5,ESF1
engchuan_15_ASD_discovery_controls-controlB390299_1007840224
Unknown
LINC01722
engchuan_15_ASD_discovery_controls-controlB407301_1007871721
Unknown
RPS10P2,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlB422760_1007840446
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlB444871_1007853318
Unknown
AIMP1P1,MACROD2
engchuan_15_ASD_discovery_controls-controlB647111_1007846512
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlB658740_1007854250
Unknown
LINC01722
engchuan_15_ASD_discovery_controls-controlB805034_1007875356
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlB814504_1007872259
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlB895793_1007844868
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlB900846_1007844887
Unknown
RPS10P2,RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlB928410_0067942587
Unknown
RPS10P2,MACROD2
engchuan_15_ASD_discovery_controls-controlB995629_1007855005
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900090_900090
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900104_900104
Unknown
RNU6-1159P,RNU6-115P,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900174_900174
Unknown
ISM1,ISM1-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900185_900185
Unknown
RNA5SP475,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900211_900211
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900369_900369
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900504_900504
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900520_900520
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900818_900818
Unknown
RPS10P2,RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900845_900845
Unknown
MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900877_900877
Unknown
LINC01722
engchuan_15_ASD_discovery_controls-controlHABC_900914_900914
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900948_900948
Unknown
RNU6-1159P,RNU6-115P,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_900990_900990
Unknown
MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_901245_901245
Unknown
RPS10P2,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_902653_902653
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
Unknown
RPS10P2,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_902688_902688
Unknown
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
engchuan_15_ASD_discovery_controls-controlHABC_902809_902809
Unknown
MACROD2-AS1,MACROD2
kanduri_15_ASD_discovery_controls-control_split1079
Unknown
MACROD2 (intronic)
kanduri_15_ASD_discovery_controls-control_split1202
Unknown
MACROD2 (intronic)
kanduri_15_ASD_discovery_controls-control_split267
Unknown
MACROD2 (intronic)
krumm_13_ASD_discovery_controls-control13418.s1
Maternal
Simplex
SEL1L2
krumm_15_ASD_discovery_controls-control11350.s1
Illumina 1M
Maternal
SEL1L2
krumm_15_ASD_discovery_controls-control13418.s1
1M-Duov3
Maternal
SEL1L2
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON3377
qRT-PCR
Unknown
MACROD2,RNU6-115P,RNU6-1159P
levy_11_ASD_discovery_controls-11066.s3
Maternal
Simplex
NA
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
nord_11_ASD_discovery_controls-04C28137
C20orf7,ESF1
sanders_11_ASD_discovery_controls-11009.s1
Maternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11057.s1
Paternal
Simplex (quad)
NA
RPS10P2,MACROD2
sanders_11_ASD_discovery_controls-11073.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11101.s1
Paternal
Simplex (quad)
NA
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_controls-11206.s1
Paternal
Simplex (quad)
NA
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_controls-11216.s1
Maternal
Simplex (quad)
NA
RPLP0P1
sanders_11_ASD_discovery_controls-11229.s1
Maternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11239.s1
Maternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11252.s1
Maternal
Simplex (quad)
NA
RNF11P2,MACROD2-IT1,MACROD2
sanders_11_ASD_discovery_controls-11256.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11270.s1
Maternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11304.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11415.s1
Maternal
Simplex (quad)
NA
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_controls-11447.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11459.s1
Maternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11556.s1
Maternal
Simplex (quad)
NA
RPLP0P1
sanders_11_ASD_discovery_controls-11644.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11828.s1
Maternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11839.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11843.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11843.s1
Maternal
Simplex (quad)
NA
LINC01722
sanders_11_ASD_discovery_controls-11920.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11933.s1
Maternal
Simplex (quad)
NA
RPS10P2,MACROD2
sanders_11_ASD_discovery_controls-11959.s1
Paternal
Simplex (quad)
NA
RPS10P2,MACROD2
sanders_11_ASD_discovery_controls-11982.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-11998.s1
Paternal
Simplex (quad)
NA
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_controls-12057.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12099.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12198.s1
Paternal
Simplex (quad)
NA
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_controls-12339.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-12346.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-12359.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12507.s1
Maternal
Simplex (quad)
NA
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_controls-12610.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12628.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-12652.s1
Paternal
Simplex (quad)
NA
MACROD2-AS1,MACROD2
sanders_11_ASD_discovery_controls-12661.s1
Maternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-12691.s1
Maternal
Simplex (quad)
NA
KIF16B
sanders_11_ASD_discovery_controls-12852.s1
Maternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-12916.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-12937.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-12964.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-13007.s1
Both parents
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-13072.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-13136.s1
Paternal
Simplex (quad)
NA
MACROD2
sanders_11_ASD_discovery_controls-13144.s1
Maternal
Simplex (quad)
NA
MACROD2
soueid_16_ASD_discovery_controls-control13
RNU6-1159P,RNU6-115P,MACROD2-AS1,MACROD2
No Animal Model Data Available