19q13.42CNV Type: Deletion-Duplication
Largest CNV size: 243259 bp
Statistics Box:
Number of Reports: 30
Number of Reports: 30
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
219608
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
223476
4
6
10
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
138304
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
478527
3
1
4
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
111268
0
2
2
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
319056
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
152020
0
3
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
36935
0
2
2
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
27160
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
7679
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
120566
3
1
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
123398
2
1
3
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
385171
0
2
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
243259
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
74332
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
204717
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
62576
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
219628
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)
216953
5
8
13
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
215987
3
1
4
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
906543
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
118056
3
1
4
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
141104
5
3
8
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
13406
1
0
1
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
257243
0
1
1
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
342100
0
1
1
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
35632
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
143249
2
6
8
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
31956
1
1
2
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
10499
0
1
1
ziats_16_DD/ID/ADHD/ASD_discovery_cases
Patients with 15q13.3 microdeletions spanning at least BP4-BP5 identified retrospectively by review of CMA results performed in the Baylor Medical Genetics Laboratory or Signature Genomics Laboratories (prior to its closure in 2014).
18
Original reasons for referral of cases included developmental delay (DD; n=5), intellectual disability (ID; n=9), ADHD (n=4), ASD (n=3), and depression (n=2). Cognitive and behavioral testing involved usage of the Differential Ability Scales-II; the Autism Diagnostic Interview-Revised (ADI-R); the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2); the Adaptive Behavior Assessment System, Second Edition (ABAS-II); and the Behavioral Assessment for Children, Second Edition (BASC-2).
Mean age, 14.0 yrs.
77.78% Male
371107
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
143822
9
11
20
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
0
0
0
0
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
47420
0
1
1
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_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
126004
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
123398
1
1
2
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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)
191850
5
6
11
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)
215987
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.
116816
3
4
7
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
342100
0
0
0
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
N/A
1
0
1
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
143249
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
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
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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)
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
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)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rosenfeld_10_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
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
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
None
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
ziats_16_DD/ID/ADHD/ASD_discovery_cases
N/A
CMA
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
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_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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
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
brandler_18_ASD_replication_cases-case3-0070-000
N/A
F
ASD
Case from MSSNG cohort
55296758
55516366
219609
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13163_1803
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55735154
55832012
96859
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14145_2430
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55735154
55958630
223477
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17007_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
53968959
54071460
102502
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17007_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
53917937
53962519
44583
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17020_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
838626
894467
55842
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1763_311
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
723534
768966
45433
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20192_1731001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55870786
56061888
191103
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5396_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55295077
55514705
219629
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8048_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
200193
318701
118509
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8660_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
619492
649892
30401
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0019703
N/A
F
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
182350
320653
138304
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1340302
Autism
59993623
60018551
24929
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1340303
Autism
59993623
60018551
24929
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1372302
Autism
59993623
60018551
24929
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1396304
Autism
59663041
60141567
478527
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU023504
Autism
59445355
59537614
92260
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU060703
Autism
59428132
59539399
111268
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case623-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
54923714
55242770
319057
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12960.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
54918474
55070494
152021
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14046.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
56195550
56232332
36783
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1107301
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
56195550
56232332
36783
GRCh38
Duplication
No
kanduri_15_ASD_discovery_cases-case1834
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
54733333
54743217
9885
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case3076
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
54699386
54736320
36935
Unknown
Duplication
No
kousoulidou_13_ASD_discovery_cases-patient1
N/A
F
Autism
Autism
619829
647541
27713
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case13171.p1
N/A
F
ASD
ASD proband from SSC quad family 13171. SRS score of 90.
Full-scale IQ (FSIQ) score of 51.
55360692
55368371
7680
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case14110.p1
N/A
M
ASD
ASD proband from SSC quad family 14110. SRS score of 69.
Full-scale IQ (FSIQ) score of 77.
101015
102865
1851
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11284.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
53794048
53798413
4366
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13171.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55360692
55377886
17195
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13855.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
45828
134804
88977
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14411.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
54938043
55038236
100194
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11442.p1
NA
M
ASD
NA
NA
55251019
55273942
22924
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11730.p1
NA
M
ASD
NA
NA
195261
318658
123398
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11730.p1
NA
M
ASD
NA
NA
55846849
55881756
34908
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband2
9 yrs.
M
ASD
Diagnosis of ASD at 6 years of age by child psychologist (assessment tools N/A). Birth/neonatal history: born vaginally at 35 weeks gestation; treated for respiratory distress in hospital for nine days following delivery; coarctation of aorta and bicuspid aortic valve noted on echocardiography at 18 days of life (end-to-end anastomosis procedure at 1 month followed by coarctation repair with patch annulopasty at four months, post-treatment echocardiograms normal). Developmental milestones: mild global developmental delay (walking at 16 months, speech emergence at 15-16 months); speaking in two-word sentences by age of three years. Behavioral/psychiatric evaluation: difficulties with socialization and repetitive behaviors (throat clearing and tics). Dysmorphic features: none reported. Family history: case is third of four children of non-consanguineous parents; one sister with anxiety, another sister with speech delay and hyperactivity, and a third sister with head-banging behaviors (none of these siblings carry the paternally-inherited 14q23.3/GPHN deletion); maternal half-brother with bipolar disorder; mother diagnosed with depression and anxiety, noted to have speech difficulties in school; individuals with additional psychological concerns in maternal extended family; father is apparently healthy with normal intelligence but has some challenges with socialization; significant psychiatric illness in paternal extended family.
Academic difficulties requiring modified program in preschool and kindergarten (graduated from program by 9 years of age, received no additional special education).
54911986
55171650
259665
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
201314
212433
11120
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0070-000
NA
F
ASD
NA
NA
55296218
55539477
243260
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case118803
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
53331420
53405751
74332
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256602
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
230961
435678
204718
GRCh38
Duplication
N/A
pfundt_16_nonNDD_discovery_cases-case73
N/A
N/A
Non-NDD
Disease cohort: blindness. Description: PRPF31 deletion
50247
112823
62577
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5228_3
NA
F
ASD
Below average language (3%ile), no epilepsy, no dysmorphic features
Average nonverbal IQ (42%ile)
59844904
59870590
25687
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5396_3
NA
F
ASD
NA
NA
55295077
55514705
219629
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1721A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU072904; NDAR ID NDAR_INVCY019GUD)
848937
857937
9001
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case01HI2126A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU041105; NDAR ID NDAR_INVKP691XLT)
619057
649316
30260
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case03HI2580A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
619057
649316
30260
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI2908A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1097302; NDAR ID NDAR_INVFK244CGQ)
192074
193398
1325
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI3312A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1342302; NDAR ID NDAR_INVVY673ZJL)
55174515
55182153
7639
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3678A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1224302; NDAR ID NDAR_INVAU544BA5)
787360
834853
47494
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3851A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
433634
650586
216953
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3851A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
848937
894467
45531
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4274A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1592302; NDAR ID NDAR_INVHM545DT4)
787360
834853
47494
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0291A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU038604; NDAR ID NDAR_INVEN731UAF)
787360
848993
61634
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0624B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU029803; NDAR ID NDAR_INVCC267GVQ)
53632105
53666762
34658
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0668A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU023504; NDAR ID N/A)
196812
316352
119541
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0838A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU046103; NDAR ID NDAR_INVBX610KTC)
53447269
53569387
122119
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case45758
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
59398479
59410842
12364
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47544L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
59724904
59738012
13109
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64249L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
60500348
60716334
215987
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case72057
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
59261086
59271425
10340
Unknown
Deletion
No
rosenfeld_10_ASD_discovery_cases-case23698
NA
NA
ASD
NA
NA
60494898
61401441
906543
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1049-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
731067
844476
113410
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1314-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
718245
797853
79609
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-046
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: no.
Developmental delay: yes. Intellectual disability: N/A.
750542
849122
98581
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-383
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
731067
849122
118056
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
227036
246503
19468
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11254.p1
9.8
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 94; verbal IQ, 48
579559
614566
35008
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
55539477
55559927
20451
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
200193
317009
116817
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
549137
560091
10955
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12076.p1
9.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
207413
317009
109597
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12960.p1
6.6
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
54921161
55062265
141105
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-13171.p1
7.9
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
55361223
55377257
16035
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
200299
213704
13406
GRCh38
Deletion
No
wang_18_TS_discovery_cases-caseTDT10-011-03
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 1 cohort; no additional clinical information available
55432176
55689419
257244
GRCh38
Duplication
No
wintle_10_ASD_discovery_cases-AN00764
20
M
Autism
Autism
55398610
55740721
342112
GRCh38
Duplication
Yes
woodbury-smith_14_ASD_discovery_cases-case6
N/A
N/A
ASD
Family history: CNV found in 1 additional ASD case and 2 non-ASD cases.
490375
526006
35632
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case564
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
53719917
53762024
42108
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case565
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
53719917
53762024
42108
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case566
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
53753705
53775854
22150
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case567
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
189072
201316
12245
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case568
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
252957
396205
143249
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case569
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
708348
719221
10874
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case570
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
708348
719221
10874
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case571
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
819805
831652
11848
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma01967s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
54142728
54174683
31956
GRCh38
Duplication
No
yuan_23_ASD_discovery_cases-qma02085s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
54186910
54193921
7012
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0884-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: intellectual disability
113114
123613
10500
GRCh38
Duplication
No
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case2
13 yrs.
M
ASD and ID
Original reason for referral: mild developmental delay, intellectual disability. Developmental milestones: age of sitting, crawling, walking, first word, and two word sentences unknown. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 19 (cutoff 10), Total B verbal score of 12 (cutoff 8), Total C score of 3 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 57 (0.2th %ile, extremely low qualitative range); Conceptual Composite Score of 65 (1st %ile, extremely low qualitative range); Social Composite Score of 68 (2nd %ile, extremely low qualitative range); Practical Composite Score of 48 (<0.1th %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 47 (%ile rank 44); Internalizing T score of 41 (%ile rank 16); Behavioral T score of 58 (%ile rank 80); Adaptive skills T score of 33 (%ile rank 5); Hyperactivity T score of 50 (%ile rank 57); Aggression T score of 47 (%ile rank 47); Conduct problems T score of 44 (%ile rank 29); Anxiety T score of 41 (%ile rank 17); Depression T score of 45 (%ile rank 39); Somatization T score of 41 (%ile rank 16); Atypicality T score of 57 (%ile rank 81); Withdrawal T score of 81 (%ile rank 99); Attention Problems T score of 55 (%ile rank 70); Adaptibility T score of 39 (%ile rank 16); Social skills T score of 29 (%ile rank 1); Leadership T score of 31 (%ile rank 2); Activities of daily living T score of 40 (%ile rank 17); Functional communication T score of 37 (%ile rank 11). History of seizures: reported staring spells. History of hypotonia: no. Growth parameters: height 34th %ile (Z score -0.42), weight 68th %ile (Z score 0.46), OFC 95th %ile (Z score 1.64). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 68; NVRIQ, 83; FSRIQ, 75.
213459
584566
371108
GRCh38
Deletion
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
engchuan_15_ASD_discovery_controls-control110036019446_
N/A
N/A
Control
No previous psychiatric history
193709
227771
34063
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB100331_1007873991
N/A
N/A
Control
No previous psychiatric history
614044
649892
35849
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB267330_1007841417
N/A
N/A
Control
No previous psychiatric history
54982360
55094733
112374
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB355026_0067942568
N/A
N/A
Control
No previous psychiatric history
202793
317009
114217
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB471729_1007842233
N/A
N/A
Control
No previous psychiatric history
614044
649892
35849
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB582347_1007848500
N/A
N/A
Control
No previous psychiatric history
202793
317009
114217
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB826365_0057060991
N/A
N/A
Control
No previous psychiatric history
614044
649892
35849
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB999735_1007854262
N/A
N/A
Control
No previous psychiatric history
614044
649892
35849
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900233_900233
N/A
N/A
Control
No previous psychiatric history
719221
768966
49746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900340_900340
N/A
N/A
Control
No previous psychiatric history
705707
849529
143823
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
N/A
N/A
Control
No previous psychiatric history
723534
768966
45433
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900385_900385
N/A
N/A
Control
No previous psychiatric history
200193
318701
118509
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900436_900436
N/A
N/A
Control
No previous psychiatric history
723534
768966
45433
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900453_900453
N/A
N/A
Control
No previous psychiatric history
619492
649892
30401
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900481_900481
N/A
N/A
Control
No previous psychiatric history
298154
331527
33374
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900641_900641
N/A
N/A
Control
No previous psychiatric history
193709
246503
52795
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900766_900766
N/A
N/A
Control
No previous psychiatric history
723534
768966
45433
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902665_902665
N/A
N/A
Control
No previous psychiatric history
55971826
56032616
60791
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902879_902879
N/A
N/A
Control
No previous psychiatric history
723534
768966
45433
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902879_902879
N/A
N/A
Control
No previous psychiatric history
220125
318701
98577
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1396
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
55315440
55362859
47420
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control13855.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
45828
134804
88977
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11730.s1
NA
F
Control
NA
NA
195261
318658
123398
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11730.s1
NA
F
Control
NA
NA
55846849
55881756
34908
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C26794A
N/A
M
Control
NIMH Control (NIMH ID 84918)
54911986
55079853
167868
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C32509B
N/A
M
Control
NIMH Control (NIMH ID 73661)
787360
834853
47494
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C33887A
N/A
F
Control
NIMH Control (NIMH ID 31937)
619295
649316
30022
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C35991A
N/A
F
Control
NIMH Control (NIMH ID 69249)
255231
273895
18665
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C37423A
N/A
F
Control
NIMH Control (NIMH ID 25921)
619057
649316
30260
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37985A
N/A
F
Control
NIMH Control (NIMH ID 75535)
787360
834853
47494
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C40313A
N/A
F
Control
NIMH Control (NIMH ID 41541)
55151832
55188170
36339
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43560
N/A
F
Control
NIMH Control (NIMH ID 36592)
787360
834853
47494
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C43571
N/A
M
Control
NIMH Control (NIMH ID 20523)
787360
848993
61634
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C43759
N/A
M
Control
NIMH Control (NIMH ID 65766)
215819
319530
103712
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44275
N/A
F
Control
NIMH Control (NIMH ID 17640)
54933567
54990674
57108
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11200.s1
9.5
F
Control (matched sibling)
NA
NA
55951241
55964266
13026
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
227036
246503
19468
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
579559
614566
35008
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
55536081
55559927
23847
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11489.s1
15.8
M
Control (matched sibling)
NA
NA
619601
649892
30292
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
200193
317009
116817
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12685.s1
12.8
F
Control (matched sibling)
NA
NA
55066696
55072084
5389
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case3-0070-000
No validation step reported
Maternal
COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,BRSK1
engchuan_15_ASD_discovery_cases-case13163_1803
Unknown
RN7SKP109,RFPL4A,RFPL4AP1,NLRP9,RFPL4AL1,NLRP11
engchuan_15_ASD_discovery_cases-case14145_2430
Unknown
RN7SKP109,RFPL4A,RFPL4AP1,NLRP9,RFPL4AL1,NLRP13,NLRP11,NLRP4,NLRP8
engchuan_15_ASD_discovery_cases-case17007_1
Unknown
MIR935,TARM1,CACNG8,VSTM1,CACNG6
engchuan_15_ASD_discovery_cases-case17007_1
Unknown
CACNG7
engchuan_15_ASD_discovery_cases-case17020_1
Unknown
engchuan_15_ASD_discovery_cases-case1763_311
Unknown
engchuan_15_ASD_discovery_cases-case20192_1731001
Unknown
NLRP13,NLRP5,NLRP4,NLRP8
engchuan_15_ASD_discovery_cases-case5396_3
Unknown
COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,BRSK1
engchuan_15_ASD_discovery_cases-case8048_202
Unknown
engchuan_15_ASD_discovery_cases-case8660_201
Unknown
feliciano_19_ASD_discovery_cases-caseSP0019703
Maternal
Simplex
LILRA3,LILRA4,LILRA5,LILRA6,LILRB2,LILRB3,LILRB5,MIR4752,RPS9
null
gai_11_ASD_discovery_cases-AU1340302
Inherited
KIR3DP1, KIR2DL4
gai_11_ASD_discovery_cases-AU1340303
Inherited
KIR3DP1, KIR2DL4
gai_11_ASD_discovery_cases-AU1372302
Inherited
KIR3DP1, KIR2DL4
gai_11_ASD_discovery_cases-AU1396304
Inherited
LENG8, LENG9, CDC42EP5, LAIR2, KIR3DX1, LILRA2,LILRA1, LILRB1, LILRB4, LILRP2, KIR3DL3, KIR3DP1, KIR2DL3, KIR2DL1, KIR2DL4, KIR3DL1, KIR2DS4, KIR3DL2, FCAR, NCR1, NLRP7
gai_11_ASD_replication_cases-AU023504
Inherited
LILRB5, LILRB2, LILRA3, LILRA5, LILRA4
gai_11_ASD_replication_cases-AU060703
Inherited
LILRA6, LILRB5, LILRB2, LILRA3, LILRA5, LILRA4
gazzellone_14_ASD_discovery_cases-case623-3
Unknown
Unknown
Unknown
MIR7975,TNNI3,SYT5,TMEM86B,MIR6804,MIR6802,NLRP7,NLRP2,GP6,EPS8L1,PPP1R12C,TNNT1,DNAAF3,PPP6R1,RDH13,PTPRH
girirajan_13a_ASD_discovery_cases-12960.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
NLRP7,NLRP2,GP6,RDH13
girirajan_13a_ASD_discovery_cases-14046.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
ZSCAN5C,ZSCAN5B,ZSCAN5A
girirajan_13a_ASD_discovery_cases-AU1107301
Unknown
Multiplex
Unknown
ZSCAN5C,ZSCAN5B,ZSCAN5A
kanduri_15_ASD_discovery_cases-case1834
De novo
Unknown
Unknown
LILRA6
kanduri_15_ASD_discovery_cases-case3076
De novo
Unknown
Unknown
LILRB3,RPS9
kousoulidou_13_ASD_discovery_cases-patient1
qPCR
Paternal
Unknown
Unknown
krumm_13_ASD_discovery_cases-case13171.p1
Maternal
Simplex
Segregated
IL11,FAM71E2
krumm_13_ASD_discovery_cases-case14110.p1
Maternal
Simplex
Segregated
krumm_15_ASD_discovery_cases-case11284.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
NLRP12
krumm_15_ASD_discovery_cases-case13171.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
IL11,FAM71E2,TMEM190
krumm_15_ASD_discovery_cases-case13855.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
krumm_15_ASD_discovery_cases-case14411.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
NLRP7,NLRP2,GP6
levy_11_ASD_discovery_cases-11442.p1
Maternal
Simplex
Segregated
PPP6R1,HSPBP1
levy_11_ASD_discovery_cases-11730.p1
Maternal
Simplex
Not segregated
levy_11_ASD_discovery_cases-11730.p1
Maternal
Simplex
Not segregated
NLRP4
lionel_13_ASD/SCZ/EP_discovery_cases-proband2
Unknown
Simplex
Unknown
NCR1,MIR7975,TNNI3,SYT5,NLRP7,NLRP2,GP6,EPS8L1,PPP1R12C,TNNT1,DNAAF3,RDH13
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
marshall_08_ASD_discovery_cases-NA0070-000
qPCR, qmPCR
Unknown
NA
NA
COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,BRSK1
mosca_16_DCD_discovery_cases-case118803
Unknown
Unknown
Unknown
ZNF525,ZNF765,ZNF845
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256602
Unknown
Unknown
Unknown
pfundt_16_nonNDD_discovery_cases-case73
MLPA or MAQ
pinto_10_ASD_discovery_cases-case5228_3
qPCR
maternal
Simplex
NA
LILRB4 exonic
pinto_10_ASD_discovery_cases-case5396_3
Agilent1M
maternal
NA
NA
COX6B2,IL11,TMEM238,MIR6805,UBE2S,SHISA7,C19orf85,ZNF628,NAT14,TMEM150B,KMT5C,FAM71E2,TMEM190,RPL28,ISOC2,SSC5D,BRSK1
poultney_13_ASD_discovery_cases-case00HI1721A
qPCR
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case01HI2126A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case03HI2580A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case04HI2908A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case04HI3312A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SYT5,PTPRH
poultney_13_ASD_discovery_cases-case05HI3678A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case05HI3851A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case05HI3851A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case05HI4274A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case98HI0291A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case98HI0624B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DPRX,RNU6-698P,MIR512-1
poultney_13_ASD_discovery_cases-case98HI0668A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case99HI0838A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TPM3P6,ZNF761,ZNF331,ZNF813
prasad_12_ASD_discovery_cases-case45758
Unknown
Unknown
Unknown
RPS9
prasad_12_ASD_discovery_cases-case47544L
Unknown
Unknown
Unknown
KIR3DX1
prasad_12_ASD_discovery_cases-case64249L
Unknown
Unknown
Unknown
ZNF628,RPL28,BRSK1,SSC5D,IL11,FAM71E2,TMEM190,TMEM150B,SHISA7,UBE2S,COX6B2,NAT14,LOC388564,SUV420H2,ISOC2
prasad_12_ASD_discovery_cases-case72057
Unknown
Unknown
Unknown
TARM1
rosenfeld_10_ASD_discovery_cases-case23698
FISH
Unknown
Unknown
Unknown
BRSK1,TMEM150B,SUV420H2,COX6B2,FAM71E2,IL11,TMEM190,TMEM238,RPL28,UBE2S,SHISA7,ISOC2,ZNF628,NAT14,SSC5D,SBK2,SGK110,ZNF579,FIZ1,ZNF524,ZNF865,ZNF784,ZNF580,ZNF581,CCDC106,U2AF2,EPN1,NLRP9,RFPL4A,NLRP11,NLRP4,NLRP13,NLRP8,NLRP5,ZNF787,ZNF444,GALP,ZSCAN5B
sajan_13_ACC/CBLH/PMG_discovery_cases-case1049-0
Not tested by qPCR
Unknown
Unknown
Unknown
sajan_13_ACC/CBLH/PMG_discovery_cases-case1314-0
Not tested by qPCR
Unknown
Unknown
Unknown
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-046
Not tested by qPCR
Unknown
Unknown
Unknown
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-383
Not tested by qPCR
Unknown
Unknown
Unknown
sanders_11_ASD_discovery_cases-11233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11254.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11440.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SBK3
sanders_11_ASD_discovery_cases-11679.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11996.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12960.p1
qPCR
De Novo
Simplex (trio)
NA
NLRP7,NLRP2,GP6,RDH13
sanders_11_ASD_discovery_cases-13171.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IL11,FAM71E2,TMEM190
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
wang_18_TS_discovery_cases-caseTDT10-011-03
CNV validation not attempted
De novo
SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,EPN1
wintle_10_ASD_discovery_cases-AN00764
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
UBE2S,SHISA7,C19orf85,ZNF628,NAT14,SBK2,ZNF579,FIZ1,ZNF524,CCDC106,RN7SKP109,RPL28,ISOC2,SSC5D,SBK3,ZNF865,ZNF784,ZNF580,ZNF581,U2AF2,NLRP9,EPN1
woodbury-smith_14_ASD_discovery_cases-case6
Unknown
Extended multiplex
Unknown
yin_16_ASD_discovery_cases-case564
Unknown
Unknown
Unknown
MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2
yin_16_ASD_discovery_cases-case565
Unknown
Unknown
Unknown
MIR520D,MIR517B,MIR520G,MIR516B2,MIR526A2,MIR518E,MIR518A1,RNU6-980P,MIR518D,MIR516B1,MIR518A2,MIR517C,MIR520H,RNU6-982P,MIR521-1,RNU6-751P,MIR522,MIR519A1,MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2
yin_16_ASD_discovery_cases-case566
Unknown
Unknown
Unknown
MIR527,MIR516A1,MIR1283-2,RNU6-1041P,MIR516A2,MIR519A2,RNU6-165P,HMGN1P32,SEPT7P8
yin_16_ASD_discovery_cases-case567
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case568
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case569
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case570
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case571
Unknown
Unknown
Unknown
yuan_23_ASD_discovery_cases-qma01967s000
De novo
MBOAT7,LENG1,TMC4,CNOT3
yuan_23_ASD_discovery_cases-qma02085s000
De novo
MBOAT7,TSEN34
yuen_17_ASD_discovery_cases-case1-0884-003
Not detected
Unknown
Simplex
Unknown
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case2
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019446_
Unknown
engchuan_15_ASD_discovery_controls-controlB100331_1007873991
Unknown
engchuan_15_ASD_discovery_controls-controlB267330_1007841417
Unknown
NLRP2,GP6,EPS8L1,PPP1R12C,RDH13
engchuan_15_ASD_discovery_controls-controlB355026_0067942568
Unknown
engchuan_15_ASD_discovery_controls-controlB471729_1007842233
Unknown
engchuan_15_ASD_discovery_controls-controlB582347_1007848500
Unknown
engchuan_15_ASD_discovery_controls-controlB826365_0057060991
Unknown
engchuan_15_ASD_discovery_controls-controlB999735_1007854262
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900233_900233
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900340_900340
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900385_900385
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900436_900436
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900453_900453
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900481_900481
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900641_900641
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900766_900766
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902665_902665
Unknown
NLRP5,NLRP8
engchuan_15_ASD_discovery_controls-controlHABC_902879_902879
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902879_902879
Unknown
kanduri_15_ASD_discovery_controls-control_split1396
Unknown
KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,LOC100287534
krumm_15_ASD_discovery_controls-control13855.s1
Omni2.5-4v1
Maternal
levy_11_ASD_discovery_controls-11730.s1
Maternal
Simplex
NA
levy_11_ASD_discovery_controls-11730.s1
Maternal
Simplex
NA
NLRP4
poultney_13_ASD_discovery_controls-control04C26794A
Unknown
NCR1,NLRP7,NLRP2,GP6,EPS8L1,RDH13
poultney_13_ASD_discovery_controls-control04C32509B
Unknown
poultney_13_ASD_discovery_controls-control04C33887A
Unknown
poultney_13_ASD_discovery_controls-control04C35991A
Unknown
poultney_13_ASD_discovery_controls-control04C37423A
Unknown
poultney_13_ASD_discovery_controls-control04C37985A
Unknown
poultney_13_ASD_discovery_controls-control05C40313A
Unknown
TNNI3,SYT5,DNAAF3,PTPRH
poultney_13_ASD_discovery_controls-control05C43560
Unknown
poultney_13_ASD_discovery_controls-control05C43571
Unknown
poultney_13_ASD_discovery_controls-control05C43759
Unknown
poultney_13_ASD_discovery_controls-control05C44275
Unknown
NLRP7,NLRP2
sanders_11_ASD_discovery_controls-11200.s1
Maternal
Simplex (quad)
NA
NLRP8
sanders_11_ASD_discovery_controls-11233.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11254.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11440.s1
Paternal
Simplex (quad)
NA
SBK2,SBK3
sanders_11_ASD_discovery_controls-11489.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11679.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12685.s1
Paternal
Simplex (quad)
NA
EPS8L1,RDH13
No Animal Model Data Available