12q24.33CNV Type: Deletion-Duplication
Largest CNV size: 215726 bp
Statistics Box:
Number of Reports: 31
Number of Reports: 31
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
71000
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
32755
2
1
3
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
551000
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
135000
1
2
3
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
228008
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
307590
2
3
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
40495
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
878000
1
1
2
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
302000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2178070
1
2
3
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
163063
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
215324
0
3
3
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
328350
0
2
2
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
603000
0
1
1
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
65000
0
1
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
1210507
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
1655000
1
0
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
674000
0
1
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
1510000
2
0
2
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
91579
1
1
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
236012
2
0
2
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
202302
5
3
8
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
673000
0
2
2
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
360207
0
1
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
0
1
1
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
57195
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
215726
24
3
27
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
403537
0
2
2
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
361000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
133279
1
0
1
van_der_zwaag_09_ASD_discovery_cases
Samples and phenotypic data from ASD patients, Dept. of Child & Adolescent Psychiatry, UMC Utrcht
105
53 cases diagnosed with non-complex autism, 52 diagnosed with complex autism
84700
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
551185
0
2
2
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
65797
0
1
1
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
154414
2
6
8
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
94480
3
1
4
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
171970
0
1
1
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
328350
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
29938
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
245620
3
4
7
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)
202302
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
673000
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
215726
8
4
12
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
van_der_zwaag_09_ASD_discovery_controls
Ethnically matched, unrelated, healthy volunteers recruited by Dept. of Neurology, UMC Utrecht
267
Controls
0
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
551185
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent SurePrint G3)
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
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
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
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
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
van_der_zwaag_09_ASD_discovery_cases
Dutch
Solid phase hybridization
HumanHap300 Beadchip
BeadStudio genotyping V2.3.41
qPCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
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
van_der_zwaag_09_ASD_discovery_controls
Dutch
Solid phase hybridization
HumanHap300 Beadchip
BeadStudio genotyping V2.3.41
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case70229
3 yrs.
M
Developmental delay
Global developmental delay, prominent speech delay, truncal ataxia, agenesis of corpus callosum, repaired cleft palate
132067992
132139066
71075
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11063
NA
M
ASD
NA
NA
133079995
133112750
32756
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
131895023
131895790
768
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11533
NA
M
ASD
NA
NA
131895023
131895790
768
GRCh38
Duplication
No
chen_17_ASD_discovery_cases-caseU-1967
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 20 (past score 25); Qualitative abnormalities in verbal and nonverbal communication, current score 11 (past score 16); Qualitative abnormalities in nonverbal communication, current score 6 (past score 7); Restricted, repetitive, and stereotyped patterns of behaviour, current score 8 (past score 10); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 82; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 49. Epilepsy: no history of epilepsy.
Performance IQ 102, Verbal IQ 88, Full-scale IQ 93
130094548
130645732
551185
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300135
N/A
F
Developmental delay/intellectual disability
131990676
132126151
135476
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300164
N/A
M
Cognitive impairment
Cognitive impairment
131990676
132043734
53059
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300769
N/A
F
Developmental delay/intellectual disability
131990676
132126151
135476
GRCh38
Duplication
No
egger_14_ASD_discovery_cases-caseA213
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
131055296
131283303
228008
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1954_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
130350057
130399657
49601
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20028_1134001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
130476029
130657777
181749
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4151_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
132575094
132882684
307591
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4292_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
132049192
132102461
53270
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5099_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
132178878
132240030
61153
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU072904
Autism
128821106
128861600
40495
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU072905
Autism
128821106
128857653
36548
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-12323.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
132473341
132743341
270001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1482302
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
132099502
132943341
843840
GRCh38
Deletion
No
kalsner_17_ASD_discovery_cases-case7
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
132515045
132816581
301537
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000453
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
130648435
130806970
158536
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004403
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131049491
133191400
2141910
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005014
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131924544
133191400
1266857
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11196.p1
N/A
M
ASD
ASD proband from SSC quad family 11196. SRS score of 80.
Full-scale IQ (FSIQ) score of 112.
133041467
133204530
163064
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12285.p1
N/A
F
ASD
ASD proband from SSC quad family 12285. SRS score of 75.
Full-scale IQ (FSIQ) score of 75.
132148783
132152401
3619
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11141.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
133083465
133204530
121066
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11583.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
130354536
130399813
45278
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12323.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
132527952
132743276
215325
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case15
N/A
F
ASD and psychosis
Female, normal range IQ, diagnosis of psychosis NOS, onset late teens, family history depression (FDR) (second unique CNV in this participant). CNV not reported in DGV.
IQ with normal range
132779509
133107859
328351
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case87
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
132674580
132844059
169479
GRCh37
Duplication
No
leppa_16_ASD_discovery_cases-AU2337303
N/A
N/A
ASD
130608038
131210960
602923
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-caseDZ77
NA
M
Epilepsy + autistic features
Phenotype: i-CSWSS. Seizure Characteristics: Awake. Autistic features: Yes. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 65, performance IQ 78 (at 4.5 years of age).
130536441
130601785
65345
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case230
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
132023843
133234349
1210507
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown22
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 pathogenic
131639845
133202490
1562646
GRCh38
Deletion
No
napoli_17_ASD_discovery_cases-case4
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
129325762
130000166
674405
GRCh38
Duplication
Yes
oikonomakis_16_ASD_discovery_cases-case475
7 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hearing impairment, antimogoloid palpebral fissures, epicanthal folds, agenesis of VIII and VII cranial nerve
133032283
133170721
138439
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case595
3 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: strabismus
131780191
133196942
1416752
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1954_301
NA
M
ASD
NA
NA
130350057
130399657
49601
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5099_3
NA
M
ASD
NA
NA
132178878
132240030
61153
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI4737A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1482302; NDAR ID NDAR_INVEE937MZQ)
132641645
132877656
236012
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0020A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU021503; NDAR ID NDAR_INVHN976UWQ)
132690261
132718812
28552
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case124498
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
131716781
131825317
108537
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case165452L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
129647057
129696062
49006
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50280
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
131329862
131532163
202302
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case50280
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
130758335
130836183
77849
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case52065
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
130985641
130998146
12506
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60565L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
131229577
131321859
92283
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case67955-L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
131643708
131667970
24263
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85750
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
131796899
131806839
9941
Unknown
Deletion
No
reinthaler_14_EP_discovery_cases-caseGGRE09
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
129322435
129995249
672815
GRCh38
Duplication
No
reinthaler_14_EP_discovery_cases-caseGGRE10
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
129322435
129995249
672815
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case11907
NA
NA
ASD
NA
NA
129602302
129962509
360207
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-078
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
130348377
130399802
51426
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-157
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 6 months).
Developmental delay: N/A. Intellectual disability: N/A.
132142123
132199317
57195
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11156.p1
13.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
131245772
131345787
100016
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11159.p1
12.9
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
131245772
131353151
107380
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11249.p1
5.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
131244924
131340251
95328
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
131245772
131340251
94480
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11407.p1
11.6
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
131245772
131340251
94480
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11462.p1
7.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 117; verbal IQ, 121
130732206
130734641
2436
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11537.p1
14.3
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
131245772
131340251
94480
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
131630341
131642564
12224
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
131313063
131340251
27189
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
133017218
133022530
5313
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11583.p1
13
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
130350057
130399802
49746
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
132561917
132578838
16922
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11638.p1
12.5
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 76; verbal IQ, 30
131245772
131340251
94480
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
131244924
131340251
95328
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
131245772
131340251
94480
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11827.p1
17.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73
133007586
133022530
14945
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
131916856
131921730
4875
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12077.p1
10.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
133007586
133022530
14945
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
131245772
131344763
98992
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
131244924
131340251
95328
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12323.p1
10.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
132526677
132742403
215727
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12340.p1
15.5
F
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 19
131244924
131340251
95328
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
130793226
130796169
2944
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12908.p1
5
F
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 81; verbal IQ, 70
131244924
131345787
100864
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13014.p1
16.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
131244924
131340251
95328
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
131245772
131340251
94480
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13192.p1
7.5
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 94
131244924
131340251
95328
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT179
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
131836615
132240151
403537
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT180
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
131836615
132240151
403537
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseBAK41
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
132109891
132378816
268926
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family72_Twin_2
N/A
N/A
NDD
Case is from a dizygotic twin pair from the Discordant NDD diagnostic group
132717481
132850759
133279
GRCh38
Deletion
No
van_der_zwaag_09_ASD_discovery_cases-subject143-003
NA
M
Non-complex autism
NA
NA
131285329
131370031
84700
Unknown
Deletion
Yes
yin_16_ASD_discovery_cases-case441
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
129390231
129401841
11611
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case442
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130094548
130645732
551185
GRCh38
Duplication
No
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-control20152
N/A
M
Control
Control
131998966
132064762
65797
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB529296_1007840921
N/A
N/A
Control
No previous psychiatric history
133104113
133181368
77256
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB589516_1007872578
N/A
N/A
Control
No previous psychiatric history
130350057
130399802
49746
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB609347_1007853750
N/A
N/A
Control
No previous psychiatric history
132840378
132949826
109449
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB659155_1007854741
N/A
N/A
Control
No previous psychiatric history
132882684
133001573
118890
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900464_900464
N/A
N/A
Control
No previous psychiatric history
130350057
130399802
49746
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900620_900620
N/A
N/A
Control
No previous psychiatric history
132526677
132605822
79146
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
N/A
N/A
Control
No previous psychiatric history
131275818
131430232
154415
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901164_901164
N/A
N/A
Control
No previous psychiatric history
131275818
131430232
154415
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1728
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
131730317
131824796
94480
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1932
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
132076082
132080570
4489
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1941
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
131730317
131824796
94480
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split408
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
131730317
131824796
94480
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12323.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
132571306
132743276
171971
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11455.s1
NA
F
Control
NA
NA
133000004
133029941
29938
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36381A
N/A
M
Control
NIMH Control (NIMH ID 48105)
132619437
132696048
76612
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C38868A
N/A
F
Control
NIMH Control (NIMH ID 31546)
132816538
132872396
55859
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C40151A
N/A
F
Control
NIMH Control (NIMH ID 63888)
133105508
133156970
51463
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43420
N/A
F
Control
NIMH Control (NIMH ID 79223)
132776632
132872396
95765
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44563
N/A
F
Control
NIMH Control (NIMH ID 10056)
131982091
132055021
72931
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
130872834
131118453
245620
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
132642175
132737067
94893
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control20
N/A
N/A
Control
Control
129322435
129995249
672815
GRCh38
Duplication
No
reinthaler_14_EP_discovery_controls-control21
N/A
N/A
Control
Control
129322435
129995249
672815
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11004.s1
10.3
M
Control (matched sibling)
NA
NA
131308827
131331668
22842
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11207.s1
17.9
F
Control (matched sibling)
NA
NA
130663511
130668980
5470
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
131245772
131340251
94480
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11404.s1
4.7
M
Control (matched sibling)
NA
NA
132102461
132119034
16574
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11455.s1
8.9
F
Control (matched sibling)
NA
NA
133001477
133030455
28979
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
130693725
130703098
9374
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
133008307
133022530
14224
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12115.s1
8.5
M
Control (matched sibling)
NA
NA
133012999
133022530
9532
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
131245772
131344763
98992
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12323.s1
4
F
Control (matched sibling)
NA
NA
132526677
132742403
215727
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12984.s1
12
M
Control (matched sibling)
NA
NA
133007586
133030455
22870
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
133007586
133022530
14945
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case70229
MLPA
De novo
Unknown
Unknown
DDX51,EP400,EP400P1
celestino-soper_11_ASD_discovery_cases-11063
aCGH (Agilent SurePrint G3)
De novo
Simplex
NA
ZNF140,ZNF891
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
ULK1
celestino-soper_11_ASD_discovery_cases-11533
Unknown
Simplex
NA
ULK1
chen_17_ASD_discovery_cases-caseU-1967
RT-qPCR
Maternal
FZD10,PIWIL1,RIMBP2
digregorio_17_DD/ID_discovery_cases-DECIPHER_300135
Paternal
SNORA49,EP400,EP400P1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300164
qPCR
Unknown
SNORA49,EP400
digregorio_17_DD/ID_discovery_cases-DECIPHER_300769
Unknown
SNORA49,EP400,EP400P1
egger_14_ASD_discovery_cases-caseA213
Unknown
Unknown
LINC01257,ADGRD1
engchuan_15_ASD_discovery_cases-case1954_301
Unknown
PIWIL1,RIMBP2
engchuan_15_ASD_discovery_cases-case20028_1134001
Unknown
RIMBP2
engchuan_15_ASD_discovery_cases-case4151_1
Unknown
MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,PXMP2,ANKLE2,FBRSL1,POLE,GOLGA3,CHFR
engchuan_15_ASD_discovery_cases-case4292_1
Unknown
EP400,EP400P1
engchuan_15_ASD_discovery_cases-case5099_3
Unknown
LINC02361,GALNT9
gai_11_ASD_replication_cases-AU072904
Inherited
TMEM132D (intronic)
gai_11_ASD_replication_cases-AU072905
Inherited
TMEM132D (intronic)
girirajan_13a_ASD_discovery_cases-12323.p1
Unknown
Simplex
Unknown
MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,PXMP2,ANKLE2,FBRSL1,POLE
girirajan_13a_ASD_discovery_cases-AU1482302
Unknown
Multiplex
Unknown
NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,DDX51,PXMP2,ANKLE2,ZNF605,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,EP400P1
kalsner_17_ASD_discovery_cases-case7
Unknown
Unknown
Unknown
MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,PXMP2,ANKLE2,FBRSL1,POLE,GOLGA3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000453
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RIMBP2,STX2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004403
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPS6P20,LINC02415,RNA5SP376,LINC02414,RNA5SP377,RPS6P21,RNA5SP378,RNU6-1017P,SNORA49,NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,RPL23AP67,LINC02370,MMP17,ULK1,PUS1,DDX51,PXMP2,ANKLE2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,ZNF10,ZNF268,LINC01257,SFSWAP,EP400,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,ZNF84,ADGRD1,EP400P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005014
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNORA49,NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,RPL23AP67,PUS1,DDX51,PXMP2,ANKLE2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,ZNF10,ZNF268,EP400,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,ZNF84,EP400P1
krumm_13_ASD_discovery_cases-case11196.p1
Maternal
Simplex
Segregated
RPL23AP67,ZNF140,ZNF891,ZNF10,ZNF268,ZNF84
krumm_13_ASD_discovery_cases-case12285.p1
Paternal
Simplex
Segregated
NOC4L
krumm_15_ASD_discovery_cases-case11141.p1
Illumina 1M
Maternal
Simplex
Segregated
RPL23AP67,ZNF140,ZNF891,ZNF10,ZNF268
krumm_15_ASD_discovery_cases-case11583.p1
Illumina 1M
Maternal
Simplex
Segregated
PIWIL1,RIMBP2
krumm_15_ASD_discovery_cases-case12323.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,PXMP2,ANKLE2,FBRSL1,POLE
larson_17_ASD_discovery_cases-case15
Unknown
Unknown
RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,GOLGA3,CHFR,ZNF84
larson_17_ASD_discovery_cases-case87
Unknown
Unknown
GALNT9
leppa_16_ASD_discovery_cases-AU2337303
qPCR; technical failure
De novo
Unknown
Possibly segregated
RNU6-1077P,ADGRD1-AS1,RAN,RIMBP2,STX2,LINC01257,ADGRD1
lesca_12_EP_discovery_cases-caseDZ77
Unknown
Unknown
Unknown
RIMBP2
mahjani_21_ASD_discovery_cases-case230
Unknown
GALNT9,CHFR,FBRSL1,EP400,NOC4L,PGAM5,GOLGA3,DDX51,EP400P1,ANHX,SNORA49,RPS11P5,ZNF605,RPL23AP67,PTP4A1P2,LRCOL1,RNA5SP379,LINC02361,NANOGNBP2,ZNF891,PXMP2,POLE,ZNF84-DT,MIR6763,RNU6-327P,RNU4ATAC12P,ZNF26,ZNF140,ZNF84,ZNF10,ZNF268,ANKLE2,P2RX2
maini_18_ASD/DD/ID_discovery_cases-case_unknown22
De novo
Unknown
Unknown
LINC02414,RNA5SP377,RPS6P21,RNA5SP378,RNU6-1017P,SNORA49,NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,RPL23AP67,MMP17,ULK1,PUS1,DDX51,PXMP2,ANKLE2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,ZNF10,ZNF268,SFSWAP,EP400,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,ZNF84,EP400P1
napoli_17_ASD_discovery_cases-case4
RT-PCR
Unknown
TMEM132D
oikonomakis_16_ASD_discovery_cases-case475
De novo
PTP4A1P2,RPL23AP67,ZNF26,ZNF140,ZNF891,ZNF10,ZNF84
oikonomakis_16_ASD_discovery_cases-case595
Unknown
RNA5SP378,RNU6-1017P,SNORA49,NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,RPL23AP67,MMP17,ULK1,PUS1,DDX51,PXMP2,ANKLE2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,ZNF10,ZNF268,SFSWAP,EP400,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,ZNF84,EP400P1
pinto_10_ASD_discovery_cases-case1954_301
Illumina550
maternal
NA
NA
PIWIL1,RIMBP2
pinto_10_ASD_discovery_cases-case5099_3
Agilent1M
maternal
NA
NA
LINC02361,GALNT9
poultney_13_ASD_discovery_cases-case05HI4737A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PGAM5,RNA5SP379,RPS11P5,RNU6-327P,PXMP2,ANKLE2,POLE,GOLGA3,CHFR
poultney_13_ASD_discovery_cases-case98HI0020A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PGAM5,PXMP2
prasad_12_ASD_discovery_cases-case124498
Unknown
Unknown
Unknown
POLE,PGAM5,PXMP2,ANKLE2
prasad_12_ASD_discovery_cases-case165452L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case50280
qPCR
Maternal
Unknown
Unknown
LOC100130238,GALNT9
prasad_12_ASD_discovery_cases-case50280
Unknown
Unknown
Unknown
SFSWAP
prasad_12_ASD_discovery_cases-case52065
Unknown
Unknown
Unknown
PUS1
prasad_12_ASD_discovery_cases-case60565L
Unknown
Unknown
Unknown
GALNT9
prasad_12_ASD_discovery_cases-case67955-L
Unknown
Unknown
Unknown
FBRSL1
prasad_12_ASD_discovery_cases-case85750
Unknown
Unknown
Unknown
PGAM5
reinthaler_14_EP_discovery_cases-caseGGRE09
Unknown
Unknown
Unknown
TMEM132D
reinthaler_14_EP_discovery_cases-caseGGRE10
Unknown
Unknown
Unknown
TMEM132D
rosenfeld_10_ASD_discovery_cases-case11907
FISH
Maternal
Unknown
Unknown
STX2,RAN
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-078
qPCR
Unknown
Unknown
Unknown
PIWIL1,RIMBP2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-157
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
NOC4L,LINC02361,DDX51,GALNT9
sanders_11_ASD_discovery_cases-11156.p1
Paternal
Simplex (quad-proband matched)
Segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-11159.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS6P20,LINC02415,RNA5SP376,LINC02370
sanders_11_ASD_discovery_cases-11249.p1
Paternal
Simplex (trio)
NA
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-11336.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-11407.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-11462.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11537.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-11554.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11554.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Unknown
Simplex (quad-proband matched)
Segregated
ZNF26
sanders_11_ASD_discovery_cases-11583.p1
Maternal
Simplex (trio)
NA
PIWIL1,RIMBP2
sanders_11_ASD_discovery_cases-11590.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FBRSL1
sanders_11_ASD_discovery_cases-11638.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-11691.p1
Both parents
Simplex (quad-proband matched)
Segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-11782.p1
Maternal
Simplex (trio)
NA
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-11827.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNF26
sanders_11_ASD_discovery_cases-12019.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
ULK1
sanders_11_ASD_discovery_cases-12077.p1
Unknown
Simplex (trio)
NA
ZNF26
sanders_11_ASD_discovery_cases-12121.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-12144.p1
Paternal
Simplex (trio)
NA
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-12323.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,PXMP2,ANKLE2,FBRSL1,POLE
sanders_11_ASD_discovery_cases-12340.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-12417.p1
Maternal
Simplex (trio)
NA
STX2
sanders_11_ASD_discovery_cases-12908.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-13014.p1
Paternal
Simplex (trio)
NA
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-13144.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_cases-13192.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
RPS6P20,LINC02415,RNA5SP376
sandoval_talamantes_23_ASD_discovery_cases-caseAUT179
Unknown
GALNT9,EP400,NOC4L,PUS1,DDX51,EP400P1,SNORA49,MMP17,LINC02361,ULK1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT180
Unknown
GALNT9,EP400,NOC4L,PUS1,DDX51,EP400P1,SNORA49,MMP17,LINC02361,ULK1
soueid_16_ASD_discovery_cases-caseBAK41
Paternal
Simplex
NOC4L,LINC02361,DDX51,GALNT9,EP400P1
stamouli_18_ASD/NDD_discovery_cases-family72_Twin_2
Unknown
Simplex
Segregated (CNV not present in unaffected twin)
PGAM5,RNA5SP379,RPS11P5,RNU6-327P,ANKLE2,GOLGA3,CHFR
van_der_zwaag_09_ASD_discovery_cases-subject143-003
qPCR
De novo
NA
NA
DDX51, NOC4L, GALNT9
yin_16_ASD_discovery_cases-case441
Unknown
Unknown
Unknown
TMEM132D
yin_16_ASD_discovery_cases-case442
Unknown
Unknown
Unknown
FZD10,PIWIL1,RIMBP2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20152
Unknown
SNORA49,EP400
engchuan_15_ASD_discovery_controls-controlB529296_1007840921
Unknown
RPL23AP67,ZNF140,ZNF891,ZNF10
engchuan_15_ASD_discovery_controls-controlB589516_1007872578
Unknown
PIWIL1,RIMBP2
engchuan_15_ASD_discovery_controls-controlB609347_1007853750
Unknown
ZNF605,CHFR
engchuan_15_ASD_discovery_controls-controlB659155_1007854741
Unknown
RNU4ATAC12P,ZNF605,NANOGNBP2,ZNF26,CHFR
engchuan_15_ASD_discovery_controls-controlHABC_900464_900464
Unknown
PIWIL1,RIMBP2
engchuan_15_ASD_discovery_controls-controlHABC_900620_900620
Unknown
MIR6763,LRCOL1,FBRSL1
engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
Unknown
RPS6P20,LINC02415,RNA5SP376,LINC02370
engchuan_15_ASD_discovery_controls-controlHABC_901164_901164
Unknown
RPS6P20,LINC02415,RNA5SP376,LINC02370
kanduri_15_ASD_discovery_controls-control_split1728
Unknown
Intergenic CNV: nearest genes, LOC116437(dist=32841),LOC338797(dist=7219)
kanduri_15_ASD_discovery_controls-control_split1932
Unknown
Intergenic CNV: nearest genes, LOC338797(dist=223982),SFSWAP(dist=115062)
kanduri_15_ASD_discovery_controls-control_split1941
Unknown
Intergenic CNV: nearest genes, LOC116437(dist=32841),LOC338797(dist=7219)
kanduri_15_ASD_discovery_controls-control_split408
Unknown
Intergenic CNV: nearest genes, LOC116437(dist=32841),LOC338797(dist=7219)
krumm_15_ASD_discovery_controls-control12323.s1
Illumina 1MDuo
Paternal
MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,PXMP2,ANKLE2,FBRSL1,POLE
levy_11_ASD_discovery_controls-11455.s1
Paternal
Simplex
NA
ZNF26
poultney_13_ASD_discovery_controls-control04C36381A
Unknown
P2RX2,PXMP2,POLE
poultney_13_ASD_discovery_controls-control05C38868A
Unknown
RPS11P5,RNU6-327P,GOLGA3,CHFR
poultney_13_ASD_discovery_controls-control05C40151A
Unknown
RPL23AP67,ZNF140,ZNF891,ZNF10
poultney_13_ASD_discovery_controls-control05C43420
Unknown
RPS11P5,RNU6-327P,GOLGA3,CHFR
poultney_13_ASD_discovery_controls-control05C44563
Unknown
SNORA49,EP400
poultney_13_ASD_discovery_controls-control05C44621
Unknown
ADGRD1-AS1,RAN,ADGRD1
poultney_13_ASD_discovery_controls-control05C44621
Unknown
PGAM5,RNA5SP379,PXMP2,ANKLE2,POLE
reinthaler_14_EP_discovery_controls-control20
Unknown
TMEM132D
reinthaler_14_EP_discovery_controls-control21
Unknown
TMEM132D
sanders_11_ASD_discovery_controls-11004.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11207.s1
Maternal
Simplex (quad)
NA
RIMBP2
sanders_11_ASD_discovery_controls-11336.s1
Paternal
Simplex (quad)
NA
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_controls-11404.s1
Maternal
Simplex (quad)
NA
EP400P1
sanders_11_ASD_discovery_controls-11455.s1
Paternal
Simplex (quad)
NA
ZNF26
sanders_11_ASD_discovery_controls-11835.s1
Maternal
Simplex (quad)
NA
RIMBP2
sanders_11_ASD_discovery_controls-12041.s1
Unknown
Simplex (quad)
NA
ZNF26
sanders_11_ASD_discovery_controls-12115.s1
Unknown
Simplex (quad)
NA
ZNF26
sanders_11_ASD_discovery_controls-12121.s1
Paternal
Simplex (quad)
NA
RPS6P20,LINC02415,RNA5SP376
sanders_11_ASD_discovery_controls-12323.s1
Paternal
Simplex (quad)
NA
MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,PXMP2,ANKLE2,FBRSL1,POLE
sanders_11_ASD_discovery_controls-12984.s1
Paternal
Simplex (quad)
NA
ZNF26
sanders_11_ASD_discovery_controls-13183.s1
Unknown
Simplex (quad)
NA
ZNF26
No Animal Model Data Available