1q43CNV Type: Deletion-Duplication
Largest CNV size: 973781 bp
Statistics Box:
Number of Reports: 27
Number of Reports: 27
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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.
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-Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with int...
Duplication
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.
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
161000
0
1
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
317167
0
1
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
213467
1
0
1
carbonell_19_ASD/ADHD/DD/ID_discovery_cases
Cases with heterozygous monogenic ANKS1B deletions: 4 cases from two families identified at Albert Einstein College of Medicine, 2 unrelated cases from Autism Speaks/MSSNG at the University of Toronto, 1 case identified through GeneMatcher, and 12 cases identified in DECIPHER.
19
Cases presented with a spectrum of neurodevelopmental disorders including ASD, ADHD, developmental delay (DD), and intellectual disability (ID)
Range, 2-35 years
57.89% Male
237630
1
0
1
cheng_19_ASD/DD/ID_discovery_cases
14-year-old Chinese male born to parents with no history of neurological disease or developmental delays.
1
Case diagnosed with ASD, developmental delay, and intellectual disability
14 years
Male
763300
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
1309350
3
8
11
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
243785
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
120839
1
2
3
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
339772
1
1
2
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
2977173
1
4
5
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
96500
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
561997
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
316204
0
4
4
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
505302
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
290000
0
3
3
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
973781
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)
0
0
1
1
perrone_12_DD/ID_discovery_cases
Only child of non-consanguineous Italian parents
1
Developmental delay/intellectual disability, autistic features, short stature, cryptorchidism, and alopecia.
7 yrs.
Male
911000
1
0
1
petersen_12_ASD_discovery_cases
Patient referred for genetic testing as part of intellectual disability and autism workup (Univ. of Rochester, Rochester, NY)
1
ASD. Presumptive diagnosis of autistic disorder given at ~12 months of age via ADOS (Autism Diagnostic Observation Schedule Module 1); diagnosis confirmed at 3 yrs. 7 months by formal pediatric evaluation.
3 yrs. 7 mos.
Male
473000
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
821705
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
733908
3
1
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
430205
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
310415
12
7
19
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
245000
1
0
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
573000
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
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
5761
2
0
2
werling_19_ASD_discovery_cases
Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
108
Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
86.11% Male
340732
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
8520
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
44808
0
1
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
538244
0
6
6
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
N/A
N/A
2
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
1274562
1
0
1
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
44119
3
0
3
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
315480
0
2
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
36737
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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.
572089
2
2
4
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)
114547
2
1
3
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
733908
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.
585798
10
3
13
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
8520
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
Array in parents
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
carbonell_19_ASD/ADHD/DD/ID_discovery_cases
10 Caucasian, 1 South Asian, 1 Pakistani, 1 Maghreb, 6 not reported
CMA, WES, WGS
Illumina (WES)
None
cheng_19_ASD/DD/ID_discovery_cases
China
NGS
Illumina
GATK
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
aCGH (NimbleGen 135K array)
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
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
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
perrone_12_DD/ID_discovery_cases
Italian
Solid phase hybridization
Illumina HumanCytoSNP-12 BeadChip
Illumina KaryoStudio v.1
None
petersen_12_ASD_discovery_cases
NA
aCGH
Cytochip ISCA 4X44K v2.0
BlueFuse Limited
FISH
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
qPCR
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
werling_19_ASD_discovery_cases
Europe
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
None
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
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case68422
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
236800709
236961327
160619
GRCh38
Duplication
Yes
bacchelli_20_ASD_discovery_cases-caseAB161
N/A
M
ASD
Clinical diagnosis of PDD according to DSM-IV
236686752
237003918
317167
GRCh38
Duplication
No
brandler_18_ASD_replication_cases-caseAU4250301
N/A
M
ASD
Case from MSSNG cohort
237432136
237645602
213467
GRCh38
Deletion
No
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-3
5 yrs.
M
N/A
Case identified in DECIPHER (DECIPHER ID 263857). No phenotypic information was reported for this individual, although it was reported that the parental phenotype was normal.
237142317
237379948
237632
GRCh38
Deletion
cheng_19_ASD/DD/ID_discovery_cases-case1
14 yrs.
M
ASD, DD, and ID
Birth/neonatal history: born at term via uncomplicated spontaneous vaginal delivery to an 24-year-old gravida at 38 weeks of gestation; birth weight 3500 g; benign neonatal history. Developmental milestones: developmental delay; concerns for delay in language skills at around 12 months of age. Language and communication evaluation: limited/no speech. Motor and musculoskeletal evaluation: hand anomalies. Behavioral/psychiatric evaluation: diagnosis of autism disorder at 3 years by pediatric evaluation; behavior characterized by impulsivity, hyperactivity, inattentiveness, and severely limited social skills. Visual evaluation: strabismus. Additional medical history: feeding difficulties. Growth parameters: short stature. Family history: parents had no history of neurological disease or developmental delays.
Intellectual disability
238885710
239649010
763301
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14150_2480
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
240883605
240975851
92247
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14202_3270
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
241356017
241413002
56986
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16065_1571161001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
239185401
239374892
189492
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3009_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
240024333
240080620
56288
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3103_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
238441012
238633540
192529
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3537_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
241658880
241771455
112576
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4429_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
238418352
239727702
1309351
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5108_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
236383086
236461990
78905
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5295_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
242141346
242963050
821705
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5372_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
238549366
238610506
61141
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8650_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
237853950
237933586
79637
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1184302
Autism
237410351
237654135
243785
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU020004
Autism
237237406
237296918
59513
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU054203
Autism
236719591
236840184
120594
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU054204
Autism
236719591
236840429
120839
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-12162.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
239620831
239642195
21365
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14240.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
241334414
241674184
339771
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002217
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241358731
241676967
318237
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004212
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
240553438
242475553
1922116
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004254
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
237255048
239452455
2197408
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004824
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
238412092
241098768
2686677
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005438
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
239631841
242609012
2977172
GRCh38
Duplication
Yes
kousoulidou_13_ASD_discovery_cases-patient14
N/A
M
ASD and ID
ASD
Intellectual disability
241127766
241224324
96559
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14240.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
241098665
241660660
561996
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11038.p1
NA
M
ASD
NA
NA
236507472
236648437
140966
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11120.p1
NA
M
ASD
NA
NA
242234889
242271625
36737
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12330.p1
NA
M
ASD
NA
NA
242480091
242746781
266691
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12330.p1
NA
M
ASD
NA
NA
240366199
240682402
316204
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
N/A
M
Developmental delay and epilepsy
Agenesis of the corpus callosum, simplified gyral pattern and seizures, developmental delay and history of failure to thrive, microcephaly, feeding difficulties, multiple congenital anomalies
Developmental delay
239837241
239982169
144929
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
N/A
M
Developmental delay and epilepsy
Agenesis of the corpus callosum, simplified gyral pattern and seizures, developmental delay and history of failure to thrive, microcephaly, feeding difficulties, multiple congenital anomalies
Developmental delay
242369685
242874986
505302
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown102
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)
239876121
240030224
154104
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown103
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)
240737422
240944177
206756
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown104
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)
242059928
242349662
289735
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0183-004
NA
M
ASD
NA
NA
242143802
243117583
973782
GRCh38
Deletion
Yes
morrow_08_ASD_discovery_cases-case3001
NA
ASD
NA
NA
234055000
234055000
0
Unknown
Duplication
No
perrone_12_DD/ID_discovery_cases-case1
7 yrs.
M
Developmental delay/intellectual disability and autistic features
Birth/neonatal history: born at term by natural childbirth; birth weight of 3450 grams (50th %ile, +0.1 SD) and length of 34 cm (<<3rd %ile, <-3 SD); feeding difficulties; possible neonatal hypotonia. Developmental milestones: delayed motor development; sitting alone after 1 year of age, walking independently at 4 years of age. Motor and musculoskeletal evaluation: difficulty chewing (eats only blended foods). Behavioral/psychiatric evaluation: autistic features; tendency to bite hands. Epilepsy/seizures: none reported. EEG: normal. Brain imaging: MRI normal. Dysmorphic features: alopecic patch in occipital area, 5th finger clinodactyly, big thumb and toe, convergent strabismus, cryptorchid testes. Growth parameters: short stature; height of 119 cm (3rd %ile, -1.80 SD), head circumference of 55 cm (>97th %ile, +2.3 SD), weight of 21.5 kg (10th %ile, -1.41 SD). Family history: only child of non-consanguineous Italian parents.
Developmental delay/intellectual disability
239433795
240345517
911723
GRCh38
Deletion
No
petersen_12_ASD_discovery_cases-case1
3 yrs. 7 mos.
M
ASD
Presumptive diagnosis of autistic disorder given at ~12 months of age via ADOS (Autism Diagnostic Observation Schedule Module 1); diagnosis confirmed at 3 yrs. 7 months by formal pediatric evaluation. Birth/neonatal history: born at term via uncomplicated spontaneous vaginal delivery to 24-yr-old G3P1A1 mother and 26-yr-old father; prenatal course significant for preeclampsia; benign neonatal history. Developmental milestones: language delay noted by parents at ~12 months of age. Language and communication evaluation: essential averbal. Behavioral/psychiatric evaluation: hyperactive, impulsive and inattentive, often exhibits self-injurious head-banging and hair-pulling, hypersensitive to tactile, visual, and stimuli, sets strict limits on texture and temperature of foods that he is willing to eat; severely limited social skills. Brain imaging: normal MRI. Other medical concerns: strabismus, cranial nerve palsy diagnosed at 14 months; otherwise normal. Dysmorphic features: prominent nasal bridge. Growth parameters: unremarkable height, weight, and head circumference. Family history: NA; parental samples not available for testing.
Intellectual disability
239249091
239722094
473004
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5295_4
NA
M
ASD
NA
NA
242141346
242963050
821705
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case117370L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
239422311
239435974
13664
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case52217
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
240371144
241105051
733908
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case52401
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
239422311
239435974
13664
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case95746
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
236781103
236848341
67239
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-128
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: yes.
Developmental delay: yes. Intellectual disability: N/A.
242342663
242772867
430205
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
236574096
236614160
40065
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11038.p1
7.6
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
236508704
236649839
141136
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
242149418
242166512
17095
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11118.p1
11.7
F
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 104; verbal IQ, 77
241033035
241052440
19406
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11264.p1
10.7
F
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
237110080
237115840
5761
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11283.p1
12
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
238346170
238469440
123271
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11512.p1
5.7
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
238911957
238917402
5446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11530.p1
8.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 88
239185401
239401382
215982
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
236438435
236618639
180205
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11839.p1
4
M
ASD
NA
Full-scale IQ, 100; non-verbal IQ, 101; verbal IQ, 99
241033035
241042133
9099
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12162.p1
4.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
239630977
239636728
5752
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12320.p1
8.5
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
238441012
238464019
23008
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
242489054
242738275
249222
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
240367991
240678406
310416
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12460.p1
9.4
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
241543233
241548834
5602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12524.p1
6.4
F
Autism
NA
Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
242904136
242917483
13348
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
236960471
236969420
8950
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13048.p1
12.9
F
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
241339609
241343947
4339
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
241964534
241977539
13006
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case74
14 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability
242033628
242278855
245228
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK45
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
237354411
237927269
572859
GRCh38
Duplication
Yes
wenger_16_ASD_discovery_cases-case52
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
237110080
237115840
5761
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case53
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
237110080
237115840
5761
GRCh38
Deletion
No
werling_19_ASD_discovery_cases-caseA047
9 yrs.
M
ASD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.5); diagnosis confirmed using either ADOS or ADI-R (ADOS score 12; ADI-R A/B/C/D scores 12/17/2/0)
IQ score 114 (SON-R)
240644005
240984736
340732
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case50
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
240135570
240144089
8520
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-control20138
N/A
F
Control
Control
239404707
239449514
44808
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036017663_
N/A
N/A
Control
No previous psychiatric history
238489668
238622717
133050
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036022705_
N/A
N/A
Control
No previous psychiatric history
242711583
242813255
101673
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB529705_1007840923
N/A
N/A
Control
No previous psychiatric history
241469707
242007949
538243
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB587657_1007848510
N/A
N/A
Control
No previous psychiatric history
237730374
237847660
117287
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900848_900848
N/A
N/A
Control
No previous psychiatric history
238496536
238614228
117693
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902947_900179
N/A
N/A
Control
No previous psychiatric history
239185401
239401382
215982
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_controls2-control1
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Unknown
No
girirajan_13a_ASD_discovery_controls2-control44
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
guo_17_ASD_discovery_controls-controlPY2819
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
237940201
239214762
1274562
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_controls-control_split1053
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
239086183
239128572
42390
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
239086183
239128572
42390
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split584
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
238817430
238861548
44119
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12788.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
242100667
242348242
247576
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14240.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
241355698
241671176
315479
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11120.s1
NA
F
Control
NA
NA
242234889
242271625
36737
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27162
Control
240379118
240396449
17332
Unknown
Deletion
nord_11_ASD_discovery_controls-04C27269
Control
235356247
235738262
382016
Unknown
Duplication
nord_11_ASD_discovery_controls-04C27269
Control
239688104
240260192
572089
Unknown
Duplication
nord_11_ASD_discovery_controls-04C28420
Control
239790695
239835848
45154
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C30242A
N/A
F
Control
NIMH Control (NIMH ID 84373)
241560663
241604581
43919
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C36954A
N/A
F
Control
NIMH Control (NIMH ID 25395)
241996161
241999010
2850
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43065
N/A
M
Control
NIMH Control (NIMH ID 53990)
240868585
240983131
114547
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
242149418
242166512
17095
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
241033035
241052440
19406
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11512.s1
4.3
F
Control (matched sibling)
NA
NA
238907468
238917402
9935
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11839.s1
4
F
Control (matched sibling)
NA
NA
241033035
241039225
6191
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
243013924
243095117
81194
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
242908396
242917483
9088
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
242908396
242917483
9088
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
239630977
239636728
5752
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12187.s1
10.2
F
Control (matched sibling)
NA
NA
242908396
242917483
9088
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12210.s1
18.8
M
Control (matched sibling)
NA
NA
238530530
238537407
6878
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12651.s1
15.8
M
Control (matched sibling)
NA
NA
238496536
238610506
113971
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12788.s1
11.1
F
Control (matched sibling)
NA
NA
242093200
242678998
585799
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
242149418
242166512
17095
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-case68422
Array in parents
Maternal
Unknown
Unknown
RPSAP21,MTR
bacchelli_20_ASD_discovery_cases-caseAB161
Paternal
Simplex
RPSAP21,RPL35P1,ACTN2,MTR
brandler_18_ASD_replication_cases-caseAU4250301
No validation step reported
Paternal
MIR4428,RYR2
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-3
Inherited
Simplex
RYR2
cheng_19_ASD/DD/ID_discovery_cases-case1
No CNV validation reported
Unknown
Simplex
Unknown
CHRM3
engchuan_15_ASD_discovery_cases-case14150_2480
Unknown
HNRNPA1P42,RGS7
engchuan_15_ASD_discovery_cases-case14202_3270
Unknown
RGS7
engchuan_15_ASD_discovery_cases-case16065_1571161001
Unknown
engchuan_15_ASD_discovery_cases-case3009_4
Unknown
FMN2
engchuan_15_ASD_discovery_cases-case3103_4
Unknown
KRT18P32,LINC01139
engchuan_15_ASD_discovery_cases-case3537_1
Unknown
OPN3,WDR64
engchuan_15_ASD_discovery_cases-case4429_1
Unknown
KRT18P32,MIPEPP2,LINC01139,CHRM3-AS2,CHRM3
engchuan_15_ASD_discovery_cases-case5108_3
Unknown
EDARADD
engchuan_15_ASD_discovery_cases-case5295_4
Unknown
RN7SKP12,RPL10AP5,RSL24D1P4,PLD5
engchuan_15_ASD_discovery_cases-case5372_3
Unknown
engchuan_15_ASD_discovery_cases-case8650_201
Unknown
ZP4
gai_11_ASD_discovery_cases-AU1184302
Inherited
0 genes
gai_11_ASD_replication_cases-AU020004
Inherited
0 genes
gai_11_ASD_replication_cases-AU054203
Inherited
0 genes
gai_11_ASD_replication_cases-AU054204
Inherited
0 genes
girirajan_13a_ASD_discovery_cases-12162.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
CHRM3
girirajan_13a_ASD_discovery_cases-14240.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
FH,OPN3,CHML,KMO,WDR64,RGS7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002217
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
FH,OPN3,CHML,KMO,WDR64
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004212
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,FH,OPN3,CHML,EXO1,TUBB8P6,GREM2,KMO,WDR64,BECN2,RGS7,PLD5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004254
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,ZP4,MTRNR2L11,LINC01139,RYR2,CHRM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004824
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,LINC01139,CHRM3-AS2,CHRM3,GREM2,FMN2,RGS7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005438
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,CHRM3,GREM2,KMO,WDR64,BECN2,FMN2,RGS7,PLD5
kousoulidou_13_ASD_discovery_cases-patient14
qPCR
Paternal
Unknown
Unknown
MIR3123,RGS7
krumm_15_ASD_discovery_cases-case14240.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR3123,FH,OPN3,CHML,KMO,WDR64,RGS7
levy_11_ASD_discovery_cases-11038.p1
Paternal
Simplex
Segregated
LGALS8-AS1,LGALS8,HEATR1
levy_11_ASD_discovery_cases-11120.p1
Paternal
Simplex
Not segregated
PLD5
levy_11_ASD_discovery_cases-12330.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
PLD5
levy_11_ASD_discovery_cases-12330.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
RNU5F-8P,GREM2,FMN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
Unknown
CHRM3-AS1,CHRM3
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
Unknown
RSL24D1P4,PLD5
maini_18_ASD/DD/ID_discovery_cases-case_unknown102
Paternal
Unknown
Unknown
CHRM3-AS1,RPS7P5,CHRM3,FMN2
maini_18_ASD/DD/ID_discovery_cases-case_unknown103
Maternal
Unknown
Unknown
THAP12P8,RFKP1,HNRNPA1P42,RGS7
maini_18_ASD/DD/ID_discovery_cases-case_unknown104
Maternal
Unknown
Unknown
RN7SKP12,TUBB8P6,PLD5
marshall_08_ASD_discovery_cases-SK0183-004
qPCR, qmPCR
Unknown
NA
NA
RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,SEPT14P21,LINC01347,PLD5
morrow_08_ASD_discovery_cases-case3001
Paternal
NA
NA
RYR2
perrone_12_DD/ID_discovery_cases-case1
De novo
Simplex
Likely segregated
CHRM3-AS1,RPS7P5,ADH5P3,CHRM3-AS2,CHRM3,FMN2
petersen_12_ASD_discovery_cases-case1
FISH
Unknown
Unknown
Unknown
CHRM3-AS2,CHRM3
pinto_10_ASD_discovery_cases-case5295_4
Agilent1M
maternal
NA
NA
RN7SKP12,RPL10AP5,RSL24D1P4,PLD5
prasad_12_ASD_discovery_cases-case117370L
qPCR
Unknown
Unknown
Unknown
RGS7
prasad_12_ASD_discovery_cases-case52217
Unknown
Unknown
Unknown
PLD5
prasad_12_ASD_discovery_cases-case52401
qPCR
Paternal
Unknown
Unknown
RGS7
prasad_12_ASD_discovery_cases-case95746
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-128
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
RPL10AP5,RSL24D1P4,PLD5
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
HEATR1
sanders_11_ASD_discovery_cases-11038.p1
Paternal
Simplex (quad-proband matched)
Segregated
LGALS8-AS1,LGALS8,HEATR1
sanders_11_ASD_discovery_cases-11041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PLD5
sanders_11_ASD_discovery_cases-11118.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RGS7
sanders_11_ASD_discovery_cases-11264.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
RYR2
sanders_11_ASD_discovery_cases-11283.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11512.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11530.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CHRM3
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ENO1P1,LGALS8-AS1,LGALS8,EDARADD,HEATR1
sanders_11_ASD_discovery_cases-11839.p1
Unknown
Simplex (quad-proband matched)
Segregated
RGS7
sanders_11_ASD_discovery_cases-12162.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CHRM3
sanders_11_ASD_discovery_cases-12320.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12330.p1
qPCR
De Novo
Simplex (trio)
NA
PLD5
sanders_11_ASD_discovery_cases-12330.p1
qPCR
De Novo
Simplex (trio)
NA
RNU5F-8P,GREM2,FMN2
sanders_11_ASD_discovery_cases-12460.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KMO
sanders_11_ASD_discovery_cases-12524.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12757.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RGS7
sanders_11_ASD_discovery_cases-13233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sansovic_17_DD/ID/ASD_discovery_cases-case74
Paternal
RN7SKP12,TUBB8P6,PLD5
soueid_16_ASD_discovery_cases-caseBAK45
qPCR
Maternal
Simplex
Not segregated (CNV also present in unaffected sibling)
MIR4428,ZP4,RYR2
wenger_16_ASD_discovery_cases-case52
Unknown
RYR2
wenger_16_ASD_discovery_cases-case53
Unknown
RYR2
werling_19_ASD_discovery_cases-caseA047
Unknown
RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,RGS7
yin_16_ASD_discovery_cases-case50
Unknown
Unknown
Unknown
FMN2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20138
Unknown
CHRM3
engchuan_15_ASD_discovery_controls-control110036017663_
Unknown
KRT18P32
engchuan_15_ASD_discovery_controls-control110036022705_
Unknown
RSL24D1P4
engchuan_15_ASD_discovery_controls-controlB529705_1007840923
Unknown
RPL23AP20,CFL1P4,MAP1LC3C,FH,OPN3,CHML,EXO1,KMO,WDR64,BECN2
engchuan_15_ASD_discovery_controls-controlB587657_1007848510
Unknown
RYR2
engchuan_15_ASD_discovery_controls-controlHABC_900848_900848
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902947_900179
Unknown
CHRM3
girirajan_13a_ASD_discovery_controls2-control1
Unknown
CHRM3
girirajan_13a_ASD_discovery_controls2-control44
Unknown
RGS7
guo_17_ASD_discovery_controls-controlPY2819
qPCR
Unknown
MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,MTRNR2L11,LINC01139
kanduri_15_ASD_discovery_controls-control_split1053
Unknown
Intergenic CNV: nearest genes, LOC339535(dist=436866),CHRM3(dist=663801)
kanduri_15_ASD_discovery_controls-control_split1932
Unknown
Intergenic CNV: nearest genes, LOC339535(dist=436866),CHRM3(dist=663801)
kanduri_15_ASD_discovery_controls-control_split584
Unknown
Intergenic CNV: nearest genes, LOC339535(dist=168113),CHRM3(dist=930825)
krumm_15_ASD_discovery_controls-control12788.s1
Illumina 1MDuo
Paternal
RN7SKP12,PLD5
krumm_15_ASD_discovery_controls-control14240.s1
Omni2.5-4v1
Maternal
FH,OPN3,CHML,KMO,WDR64,RGS7
levy_11_ASD_discovery_controls-11120.s1
Paternal
Simplex
NA
PLD5
nord_11_ASD_discovery_controls-04C27162
PLD5
nord_11_ASD_discovery_controls-04C27269
RYR2
nord_11_ASD_discovery_controls-04C27269
CHML,EXO1,FH,KMO,MAP1LC3C,OPN3,WDR64
nord_11_ASD_discovery_controls-04C28420
KMO,OPN3
poultney_13_ASD_discovery_controls-control04C30242A
Unknown
OPN3,KMO
poultney_13_ASD_discovery_controls-control04C36954A
Unknown
MAP1LC3C
poultney_13_ASD_discovery_controls-control05C43065
Unknown
HNRNPA1P42,RGS7
sanders_11_ASD_discovery_controls-11041.s1
Maternal
Simplex (quad)
NA
PLD5
sanders_11_ASD_discovery_controls-11118.s1
Paternal
Simplex (quad)
NA
RGS7
sanders_11_ASD_discovery_controls-11512.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11839.s1
Maternal
Simplex (quad)
NA
RGS7
sanders_11_ASD_discovery_controls-11935.s1
Unknown
Simplex (quad)
NA
RNU6-747P,SEPT14P21,LINC01347
sanders_11_ASD_discovery_controls-11964.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11982.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12162.s1
Paternal
Simplex (quad)
NA
CHRM3
sanders_11_ASD_discovery_controls-12187.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12210.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12651.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12788.s1
Paternal
Simplex (quad)
NA
RN7SKP12,RPL10AP5,PLD5
sanders_11_ASD_discovery_controls-12972.s1
Maternal
Simplex (quad)
NA
PLD5
No Animal Model Data Available