17p12CNV Type: Deletion-Duplication
Largest CNV size: 1385875 bp
Statistics Box:
Number of Reports: 36
Number of Reports: 36
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion-Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Duplication
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-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.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
1396873
1
0
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
1100000
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
746356
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
1395524
2
1
3
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
1404000
2
0
2
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
1371438
2
0
2
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
1499634
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
1257282
3
4
7
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
1257282
3
9
12
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1383339
2
0
2
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
1340005
1
0
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
2314399
1
0
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
941656
1
0
1
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
1160000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1533288
4
9
13
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
1363373
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1317545
3
2
5
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
1389707
1
0
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
1339640
1
0
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
250760
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1400000
2
2
4
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
1300000
1
0
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
1371641
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
1395525
1
0
1
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)
785185
2
2
4
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
363826
0
2
2
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
1416095
2
0
2
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
362911
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
40356
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
1385875
31
11
42
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
1330000
0
1
1
schaaf_12_ASD/DD/ID_discovery_cases
22 patients (out of 8051) referred to BCM MCL for aCGH analysis from August 2009-September 2010 with identified intragenic NRXN1 deletions, plus two additional patients recruited who had CMA testing at different laboratories (University of Iowa and Quest Diagnostics)
24
ASD (13/24), autistic features (4/24), ADHD (8/22), developmentla delay/intellectual disability (18/21), seizures (11/24), hypotonia (10/24)
Range, 16 days-30 years (age at diagnosis)
66.7% Male
1322771
0
1
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
933300
5
2
7
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
1380000
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
52526
0
1
1
yuan_15_DD_discovery_cases
Subjects with genomic rearrangements that simultaneously duplicate PMP22 and RAI1 from an initial cohort of 127 subjects with proximal 17p duplications encompassing RAI1
23
Clinical records of 17/23 subjects were available for review; most consistently reported clinical features were feeding difficulties, global developmental delay, behavioral difficulties, and language delay.
N/A
N/A
3541213
3
8
11
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
1398999
2
1
3
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
1371967
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
1100000
0
0
0
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
1405297
4
4
8
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
1499634
0
0
0
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
1257282
0
2
2
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1383339
0
0
0
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
1381211
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
1370151
3
0
3
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
46930
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1355157
2
0
2
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
1421765
1
0
1
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
250760
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
49125
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
1363377
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
1383339
21
5
26
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
52526
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13a_DD_discovery_cases
NA
N/A
N/A
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
schaaf_12_ASD/DD/ID_discovery_cases
Caucasian (n=16), Hispanic (n=5), Caucasian/Hispanic (n=1), Asian (n=1), Ashkenazi Jewish (n=1)
aCGH
BCM V8 OLIGO microarray, Nimblegen Nimblechip HG18 oligo array, ClariSure CGH BACs array
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_15_DD_discovery_cases
N/A
aCGH
Agilent 4x180K, 8x60K arrays
FISH, long-range PCR
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
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
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
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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_discovery_cases-caseREACH000767
N/A
M
ASD
Case from REACH cohort
14186761
15583636
1396876
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU014905
NA
M
ASD
NA
NA
14236527
15379408
1142882
GRCh38
Deletion
Yes
egger_14_ASD_discovery_cases-caseA217
10 yrs. (born 2004)
M
ASD
Diagnosis: high functioning autism. Co-morbidities/additional features: none reported. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Normal IQ
12394631
13140986
746356
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case18088_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13273495
13330887
57393
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2271_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14196425
15591952
1395528
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3135_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14196425
15579767
1383343
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD381
3 yrs. 2 mos.
M
ASD
CARS score 34 (mild severity)
14184617
15588218
1403602
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD445
5 yrs. 3 mos.
M
ASD
CARS score 43.5 (severe severity)
14184617
15581545
1396929
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU014904
Autism
14040467
15390352
1349886
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU014905
Autism
14040467
15411904
1371438
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si102
9
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 93; Non-verbal IQ, 92.
14114044
15613681
1499638
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11944.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
15535961
16685961
1150001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13328.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
14265840
15523125
1257286
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13491.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
14265840
15523125
1257286
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13555.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
14265840
15523125
1257286
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14491.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
14265840
15523125
1257286
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU070705
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
14265840
15523125
1257286
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU3006301
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
14265840
15523125
1257286
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase350
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase351
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase352
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Deletion
No
girirajan_13a_DD_discovery_cases-DDcase353
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase354
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase355
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase356
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase357
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase358
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase359
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase360
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase361
N/A
N/A
Developmental delay
N/A
N/A
14265840
15523125
1257286
GRCh38
Duplication
No
griswold_12_ASD_discovery_cases-case3566
NA
NA
ASD/autism
NA
NA
14196425
15579767
1383343
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case37541
NA
NA
ASD/autism
NA
NA
14241663
15572530
1330868
GRCh38
Deletion
Yes
guo_17_ASD_discovery_cases-caseM8767
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
14214987
15554994
1340008
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-345-03
N/A
M
Intellectual disability and ADHD
ADHD, hearing impairment
Intellectual disability (FSIQ 74, NVIQ 76, VIQ 77)
13073001
15387400
2314400
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case6
2 yrs.
NA
Developmental delay
Developmental delay partially similar to Wolf-Hirschhorm syndrome phenotype
Severe developmental delay
14177252
15118908
941657
GRCh38
Deletion
Yes
jiao_19_EP/DD/ID_discovery_cases-case52087
2 yrs. 5 mos.
Female
DD and ID
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: motor deterioration. Growth parameters: short stature, microcephaly.
Intellectual disability
14428310
15588313
1160004
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000808
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14208455
15538752
1330298
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001044
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14208455
15538752
1330298
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002080
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14186983
15578926
1391944
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004068
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14126296
15659587
1533292
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004169
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14186983
15563870
1376888
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004406
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14186983
15578926
1391944
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004534
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14208255
15538893
1330639
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004758
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14186983
15578926
1391944
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004967
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14208255
15538893
1330639
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005014
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14208455
15538752
1330298
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005064
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14208455
15538752
1330298
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005282
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15249474
15259215
9742
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005411
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14208455
15538752
1330298
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case13328.p1
N/A
M
ASD
ASD proband from SSC quad family 13328. SRS score of 61.
Full-scale IQ (FSIQ) score of 100.
14191988
15555364
1363377
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12492.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
12894939
13017947
123009
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12924.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14710587
15553829
843243
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13491.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
14710587
15547148
836562
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13555.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14236281
15553829
1317549
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14491.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
14191988
15503232
1311245
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0895
14 yrs.
M
ASD, ADHD
Developmental milestones: language delay. Behavioral/psychiatric evaluation: ADHD, sensory hypersensitivity, echolalia. Congenital and developmental phenotypes: low birth weight, preterm birth. Family history: negative.
IQ > 70
14183541
15573247
1389707
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1274
60 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 20 years of age (core symptoms include delusions, poor impulse control). Brain imaging: mild frontotemporal atrophy on brain CT. Physical comorbidities: probable hereditary neuropathy with liability to pressure palsies, diabetes mellitus, Wolff-Parkinson-White syndrome. Congenital and developmental phenotypes: ocular hypertelorism. Family history: negative.
IQ > 70
14178908
15518547
1339640
GRCh38
Deletion
N/A
larson_17_ASD_discovery_cases-case23
N/A
M
ASD and psychosis
Male, borderline IQ, psychosis onset early 20s, diagnosis of psychosis NOS, family history of depression (no FDRs). CNV not reported in DGV.
Borderline IQ
15609720
15860480
250761
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU014904
N/A
M
ASD
14196683
15567686
1371004
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU014905
N/A
M
ASD
14196683
15567686
1371004
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU070703
N/A
M
ASD
14196683
15591686
1395004
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU070705
N/A
M
ASD
14196683
15591686
1395004
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case63
3 yrs.
F
ASD and language delay
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: absent speech. Behavioral/psychiatric evaluation: ASD. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: congenital heart defects. Dysmorphic features: full cheeks, thick lips. Growth parameters: macrocephaly, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Not reported
14187013
15538726
1351714
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case93
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: Charcot-Marie-Tooth syndrome type 1A (CMT1A); Hereditary Liability to Pressure Palsies (HNPP)
14191988
15563632
1371645
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case2271_1
N/A
M
ASD
PDD-NOS (autism on ADI-R, ASD on ADOS), language delay, developmental coordination disorder, anxiety disorder, sleep disturbance, asthma, myopia, astigmatism. Family history: both parents have OCD.
Normal IQ (WASI at 118 mo: VIQ 123, NVIQ 138, FSIQ 135).
14196425
15591952
1395528
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1404A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU070705; NDAR ID NDAR_INVZD470AGN)
14770179
15555366
785188
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4214A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1437301; NDAR ID NDAR_INVBP502DMG)
15974677
16194571
219895
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0361A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU002704; NDAR ID NDAR_INVXF645EXZ)
15706385
15717292
10908
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0624B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU029803; NDAR ID NDAR_INVCC267GVQ)
15706385
15717292
10908
GRCh38
Deletion
No
qiao_12_ASD_discovery_cases-case10-96A
NA
NA
ASD and/or ID
NA
NA
15554486
15918312
363826
Unknown
Duplication
Yes
qiao_12_ASD_discovery_cases-case10-97A
NA
NA
ASD and/or ID
NA
NA
15554486
15918312
363826
Unknown
Duplication
Yes
quintela_17_DD/ID_discovery_cases-caseID_70
N/A
M
Intellectual disability
Microcephaly
Intellectual disability
15815213
15922269
107057
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_96
5 yrs.
M
ASD and intellectual disability
ASD. CNV inherited from unaffected parent.
Intellectual disability
14165447
15581544
1416098
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case21667
NA
NA
ASD
NA
NA
14907643
15270554
362911
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-429
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
15430245
15470603
40359
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11013.p1
10
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 137; verbal IQ, 119
13275120
13330887
55768
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
15741192
15768630
27439
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11046.p1
6.6
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 62
15140682
15155959
15278
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
15731113
15768630
37518
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11122.p1
7.8
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
13995904
14033087
37184
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11150.p1
7.6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 67
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
15741192
15768630
27439
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11188.p1
15.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
13802966
13808313
5348
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11390.p1
8.3
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11445.p1
8.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11471.p1
13.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 89; verbal IQ, 31
15140682
15154919
14238
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
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11550.p1
8.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
15741192
15768630
27439
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11982.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
15140682
15155959
15278
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12173.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
14186652
15572530
1385879
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
15731113
15768630
37518
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12423.p1
10.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12445.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
15704880
15708934
4055
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12492.p1
15.4
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 30; verbal IQ, 19
12888551
13035721
147171
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12703.p1
12.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 58; verbal IQ, 61
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12717.p1
11.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 86
13280156
13330887
50732
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
15741192
15768630
27439
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12924.p1
5.5
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
14196425
15579767
1383343
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13120.p1
8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
15741192
15768630
27439
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
15704880
15708934
4055
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13367.p1
9.7
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
15140682
15154919
14238
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case31
13 yrs.
M
Congenital anomalies
Congenital anomalies
14208455
15538752
1330298
GRCh38
Duplication
No
schaaf_12_ASD/DD/ID_discovery_cases-caseE1
16 days
F
Multiple congenital anomalies
Autism: No formal testing. ADHD: Unknown. Developmental milestones: sitting, 9 months; walking, N/A; first word, N/A. Seizures: None. EEG: None. Brain MRI: Frontal subdural hygroma, mild ventriculomegaly. Hypotonia: Present. Motor coordination defects: None. Congenital anomalies: Complex congenital heart defect (double outlet right ventricle, dextro-transposition of the great arteries). Dysmorphic features: Cupped ears, epicanthal folds, long palpebral fissures, flat nasal bridge. Growth parameters: weight (%ile), 15; length (%ile), 10; FOC (%ile), 5. Ethnicity: Hispanic. Vision: Normal. Hearing: Normal.
Unknown
14196801
15519575
1322775
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR001-D12-8012-111
NA
ASD
NA
NA
14460358
15393658
933301
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR001-E1-8012-201
NA
ASD
NA
NA
14588858
15393658
804801
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR028-B4-3135.002
NA
ASD
NA
NA
14460358
15393658
933301
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR028-C4-3135.003
NA
ASD
NA
NA
14460358
15393658
933301
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR028-D4-3135.004
NA
ASD
NA
NA
14460358
15393658
933301
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR068-B11-HI1405
NA
ASD
NA
NA
14460358
15393658
933301
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR068-B12-HI1404
NA
ASD
NA
NA
14460358
15393658
933301
GRCh38
Duplication
Yes
xu_16_ASD/DD/ID_discovery_cases-case30
9 yrs.
M
Developmental delay
Primary diagnosis of developmental delay based on DQ scores. Dysmorphic facial features, hypospadias, short stature, no evidence of neuropathy at time of evaluation (17p12 duplication is a known cause of Charcot-Marie-Tooth disease type 1A)
14191370
15579189
1387820
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case513
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
13507244
13559769
52526
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB1229
4.5 yrs.
M
Developmental delay
Infancy: failure to thrive; feeding difficulties not reported. Development: developmental delay, age at walking of 24 months, behavioral difficulties, language delay. Clinical neuropathy, exercise intolerance. Physical features: facial dysmorphism, unusual gait/dropped foot, distal extremity weakness/atrophy, reduced/absent ankle deep tendon reflexes. Studies and imaging: median nerve motor nerve conduction velocity of 19.7 m/sec, median nerve distal compound muscle action potential of 3.4 mV; syringomyelia, congenital heart defect, and renal abnormalities not reported. Case CNV pattern: complex genomic rearrangment (deletion-normal-copy segment-duplication).
15171992
15210415
38424
GRCh38
Deletion
Yes
yuan_15_DD_discovery_cases-caseBAB1458
19 mos.
M
Developmental delay
Infancy: failure to thrive; feeding difficulties not reported. Development: developmental delay; age at walking, behavioral difficulties, and language delay not reported. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance not reported. Physical features: facial dysmorphism; foot deformities, unusual gait/dropped foot, distal extremity weakness/atrophy, sensory loss, and reduced/absent ankles deep tendon reflexes not reported. Studies and imaging: Alport syndrome; brain MRI abnormalities, syringomyelina, congenital heart defect, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported. Case CNV pattern: complex genomic rearrangment (triplication-normal-copy segment-duplication).
13313149
14727629
1414481
GRCh38
Triplication
No
yuan_15_DD_discovery_cases-caseBAB2211
4 yrs. 10 mos.
M
Developmental delay
Infancy: feeding difficulties, failure to thrive, infantile hypotonia. Development: developmental delay, age at walking of 18 months, behavioral difficulties, language delay. Clinical neuropathy/exercise intolerance. Sleep disturbance. Physical features: facial dysmorphism, hyperpronation of feet, unusual gait/dropped foot, distal extremity weakness/atrophy, sensory loss, reduced/absent ankle deep tendon reflexes. Studies and imaging: MRI brain abnormality, syringomyelia, dilated aortic root, aortic aneurysm, bicuspid aortic valve, patent foramen ovale, possible ventricular septal defect, malrotation of left kidney, median nerve motor nerve conduction velocity of 15.4 m/sec (peroneal), median nerve distal compound muscle action potential of 2.4 mV. Case CNV pattern: complex genomic rearrangment (duplication-normal-copy segment-duplication).
12835600
12902097
66498
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB2337
11 mos.
M
Developmental delay
Infancy: failure to thrive, infantile hypotonia; feeding difficulties not reported. Development: developmental delay; age at walking, behavioral difficulties, and language delay not reported. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance not reported. Physical features: bilateral talipes equinovarus; facial dysmorphism, unusual gait/dropped foot, distal extremity weakness/atrophy, sensory loss, and reduced/absent ankle deep tendon reflexes not reported. Studies and imaging: bicuspid aortic valve; MRI brain abnormalities, syringomyelia, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.Case CNV pattern: complex genomic rearrangment (deletion1-normal-copy segment-duplication1-normal-copy segment-deletion2-normal-copy segment-duplication2-triplication1-duplication2-triplication2-duplication2).
11684182
13587581
1903400
GRCh38
Deletion
Yes
yuan_15_DD_discovery_cases-caseBAB2337
11 mos.
M
Developmental delay
Infancy: failure to thrive, infantile hypotonia; feeding difficulties not reported. Development: developmental delay; age at walking, behavioral difficulties, and language delay not reported. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance not reported. Physical features: bilateral talipes equinovarus; facial dysmorphism, unusual gait/dropped foot, distal extremity weakness/atrophy, sensory loss, and reduced/absent ankle deep tendon reflexes not reported. Studies and imaging: bicuspid aortic valve; MRI brain abnormalities, syringomyelia, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.Case CNV pattern: complex genomic rearrangment (deletion1-normal-copy segment-duplication1-normal-copy segment-deletion2-normal-copy segment-duplication2-triplication1-duplication2-triplication2-duplication2).
14459232
14525783
66552
GRCh38
Triplication
Yes
yuan_15_DD_discovery_cases-caseBAB2711
3 yrs.
F
Developmental delay
Infancy: feeding difficulties, infantile hypotonia. Development: developmental delay, age at walking of 19 months, behavioral difficulties, language delay. Sleep disturbance. Physical features: facial dysmorphism, unusual gait/dropped foot. Studies and imaging: MRI brain abnormality; syringomyelia, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported. Case CNV pattern: complex genomic rearrangment (deletion-normal-copy segment-duplication).
11027018
11110582
83565
GRCh38
Deletion
Yes
yuan_15_DD_discovery_cases-caseBAB2790
N/A
N/A
N/A
Detailed clinical information for this patient not available. Case CNV pattern: complex genomic rearrangment (duplication-normal-copy segment-inversion/duplication).
12531365
13070071
538707
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB527
9 yrs.
M
Developmental delay
Infancy: feeding difficulties, failure to thrive, infantile hypotonia. Development: development delay, walking at age of 6 years, behavioral difficulties, language delay. Clinical neuropathy (age of onset, infancy). exercise intolerance. Sleep disturbance. Physical features: facial dysmorphism, sandle gap, 2-3 toe syndactyly, unusual gait/dropped foot, hypertonicity of lower extremities, sensory loss, reduced/absent ankle deep tendon reflexes. Studies and imaging: brain MRI abnormality, double outlet right ventricle. ventricular septal defect, atrial septal defect, overriding aorta, small renal cysts, median nerve motor nerve conduction velocity of 20.1 m/sec, median nerve distal compound muscle action potential of 6 mV. Case CNV pattern: complex genomic rearrangment (duplication-normal-copy segment-duplication).
11050901
14592113
3541213
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB6504
3.5 yrs.
M
Developmental delay
Infancy: feeding difficulties, failure to thrive, infantile hypotonia. Development: developmental delay, language delay; age at walking and behavioral difficulties not reported. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance not reported. Physical features: foot deformities, generalized hypotonia, increased tone on left arm and leg; facial dysmorphism, unusual gait/dropped foot, sensory loss, and reduced/absent ankle deep tendon reflexes not reported. Studies and imaging: MRI brain abnormality; syringomyelia, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.Case CNV pattern: complex genomic rearrangment (duplication-normal-copy segment-duplication).
13679303
13902228
222926
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU070703
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: anxiety; OCD; chronic diarrhea
14185684
15584686
1399003
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3006301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
14186684
15583686
1397003
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU4463303
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
14186684
15583686
1397003
GRCh38
Deletion
No
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case18
14 yrs.
M
ID and ADHD
Original reason for referral: mild intellectual disability, ADHD. Developmental milestones: sitting at 12 months, crawling at 13 months, walking at 17 months; first word at 48 months, 2 word sentences at 60 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 6 (cutoff 10), Total B verbal score of 11 (cutoff 8), Total C score of 2 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 40 (1st %ile,extremely low qualitative range); Conceptual Composite Score of 14 (2nd %ile, extremely low qualitative range); Social Composite Score of 14 (19th %ile, below average qualitative range); Practical Composite Score of 12 (0.2nd %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 53 (%ile rank 68); Internalizing T score of 61 (%ile rank 87); Behavioral T score of 57 (%ile rank 78); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 56 (%ile rank 76); Aggression T score of 52 (%ile rank 67); Conduct problems T score of 49 (%ile rank 57); Anxiety T score of 50 (%ile rank 55); Depression T score of 50 (%ile rank 60); Somatization T score of 76 (%ile rank 98); Atypicality T score of 56 (%ile rank 80); Withdrawal T score of 52 (%ile rank 64); Attention Problems T score of 66 (%ile rank 93); Adaptibility T score of 43 (%ile rank 24); Social skills T score of 43 (%ile rank 27); Leadership T score of 37 (%ile rank 10); Activities of daily living T score of 27 (%ile rank 1); Functional communication T score of 34 (%ile rank 7). History of seizures: no. History of hypotonia: no. Growth parameters: height 61st %ile (Z score 0.28), weight 90th %ile (Z score 1.26), OFC >99th %ile (Z score 2.99). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 38; NVRIQ, 35; FSRIQ, 36.
721119
2093091
1371973
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-controlB253338_1007841376
N/A
N/A
Control
No previous psychiatric history
12077761
12718465
640705
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
N/A
N/A
Control
No previous psychiatric history
14537797
14673135
135339
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
N/A
N/A
Control
No previous psychiatric history
14154771
14395493
240723
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB563561_1007874280
N/A
N/A
Control
No previous psychiatric history
13275120
13330887
55768
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900299_900299
N/A
N/A
Control
No previous psychiatric history
14196425
15572530
1376106
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900800_900800
N/A
N/A
Control
No previous psychiatric history
13275120
13334220
59101
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902583_902583
N/A
N/A
Control
No previous psychiatric history
14186652
15591952
1405301
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902652_902652
N/A
N/A
Control
No previous psychiatric history
14186652
15579767
1393116
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls3-control24
N/A
N/A
Control
N/A
N/A
14265840
15523125
1257286
GRCh38
Unknown
No
girirajan_13a_ASD_discovery_controls3-control25
N/A
N/A
Control
N/A
N/A
14265840
15523125
1257286
GRCh38
Unknown
No
guo_17_ASD_discovery_controls-controlPY2576
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
14186652
15567865
1381214
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_controls-control_split1877
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
14101029
15471179
1370151
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split282
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
15044804
15058236
13433
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split326
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
15044804
15058236
13433
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11067.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11067. SRS score of 40.
11763439
11810369
46931
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control12924.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
14191988
15547148
1355161
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14491.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
14191988
15540561
1348574
GRCh38
Deletion
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0043
30 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
14170515
15592279
1421765
GRCh38
Deletion
N/A
levy_11_ASD_discovery_controls-11067.s1
NA
F
Control
NA
NA
11761447
11810571
49125
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43915
N/A
F
Control
NIMH Control (NIMH ID 57493)
14191987
15555366
1363380
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11048.s1
8.1
M
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11067.s1
16.7
F
Control (matched sibling)
NA
NA
11761514
11809174
47661
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
12443294
12449680
6387
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11216.s1
6.4
M
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11216.s1
6.4
M
Control (matched sibling)
NA
NA
13802966
13808313
5348
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11239.s1
15.1
M
Control (matched sibling)
NA
NA
15741192
15768630
27439
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11424.s1
6.8
F
Control (matched sibling)
NA
NA
15704880
15717903
13024
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11512.s1
4.3
F
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11522.s1
15.6
M
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11550.s1
6.6
F
Control (matched sibling)
NA
NA
15140682
15155959
15278
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11597.s1
9
M
Control (matched sibling)
NA
NA
14104543
14126665
22123
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11954.s1
6.8
F
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12001.s1
6.3
F
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12173.s1
4.1
M
Control (matched sibling)
NA
NA
14196425
15572530
1376106
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12456.s1
12
M
Control (matched sibling)
NA
NA
15704880
15708934
4055
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12924.s1
7.9
F
Control (matched sibling)
NA
NA
14196425
15579767
1383343
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12925.s1
14.8
F
Control (matched sibling)
NA
NA
13275120
13330887
55768
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13120.s1
6.2
M
Control (matched sibling)
NA
NA
15140682
15154919
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13136.s1
4.3
F
Control (matched sibling)
NA
NA
15741192
15768630
27439
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13153.s1
11.8
M
Control (matched sibling)
NA
NA
15704880
15708934
4055
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000767
SNP VCF
De novo
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
christian_08_ASD_discovery_cases-AU014905
FISH, microsatellite
inherited
Multiplex
NA
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,HS3ST3B1,LINC02096,CDRT8,PMP22,TEKT3
egger_14_ASD_discovery_cases-caseA217
qPCR
Unknown (not maternal)
Unknown
MIR1269B,ELAC2,MYOCD,ARHGAP44,LINC00670
engchuan_15_ASD_discovery_cases-case18088_301
Unknown
LINC02093
engchuan_15_ASD_discovery_cases-case2271_1
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
engchuan_15_ASD_discovery_cases-case3135_4
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
fan_19_ASD_discovery_cases-caseASD381
Unknown
Unknown
Unknown
CDRT15,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
fan_19_ASD_discovery_cases-caseASD445
Unknown
Unknown
Unknown
CDRT15,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
gai_11_ASD_replication_cases-AU014904
Inherited
COX10, CDRT15, HS3ST3B1, MGC12916, PMP22, TEKT3, CDRT4, FAM18B2
gai_11_ASD_replication_cases-AU014905
Inherited
COX10, CDRT15, HS3ST3B1, MGC12916, PMP22, TEKT3, CDRT4, FAM18B2
girirajan_11_ASD_discovery_cases-Si102
De novo
Simplex
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
girirajan_13a_ASD_discovery_cases-11944.p1
Unknown
Simplex
Unknown
ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624
girirajan_13a_ASD_discovery_cases-13328.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_ASD_discovery_cases-13491.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_ASD_discovery_cases-13555.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_ASD_discovery_cases-14491.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_ASD_discovery_cases-AU070705
Unknown
Multiplex
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_ASD_discovery_cases-AU3006301
Unknown
Multiplex
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase350
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase351
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase352
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase353
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase354
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase355
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase356
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase357
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase358
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase359
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase360
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_DD_discovery_cases-DDcase361
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
griswold_12_ASD_discovery_cases-case3566
qPCR
Maternal
Simplex
Segregated
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
griswold_12_ASD_discovery_cases-case37541
qPCR
Maternal
Simplex
Segregated
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
guo_17_ASD_discovery_cases-caseM8767
qPCR
Maternal
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
guo_18_ASD/DD/ID_discovery_cases-caseBK-345-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MIR548H3,CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,LINC02093,HS3ST3B1,LINC02096,CDRT8,PMP22,HS3ST3A1,COX10-AS1,CDRT15P1,COX10,TEKT3
iourov_12_ASD/ID/EP_discovery_cases-case6
FISH
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,HS3ST3B1,LINC02096,CDRT8,COX10
jiao_19_EP/DD/ID_discovery_cases-case52087
Unknown
Unknown
Unknown
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000808
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001044
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002080
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004068
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004169
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004406
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004534
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004758
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004967
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005014
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005064
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005282
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4731,PMP22
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005411
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
krumm_13_ASD_discovery_cases-case13328.p1
Paternal
Simplex
Segregated
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
krumm_15_ASD_discovery_cases-case12492.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR1269B,ELAC2,ARHGAP44
krumm_15_ASD_discovery_cases-case12924.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
krumm_15_ASD_discovery_cases-case13491.p1
1M-Duov3
Paternal
Simplex
Segregated
RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
krumm_15_ASD_discovery_cases-case13555.p1
1M-Duov3
De novo
Simplex
Segregated
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
krumm_15_ASD_discovery_cases-case14491.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
kushima_18_ASD_discovery_cases-caseASD0895
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
kushima_18_SCZ_discovery_cases-caseSCZ1274
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
larson_17_ASD_discovery_cases-case23
Unknown
Unknown
ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,TRIM16,ZNF286A,TBC1D26,LINC02087,CDRT1,SPECC1P1
leppa_16_ASD_discovery_cases-AU014904
Maternal
Multiplex
Segregated (CNV present in both affected siblings, not present in unaffected siblings)
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
leppa_16_ASD_discovery_cases-AU014905
Maternal
Multiplex
Segregated (CNV present in both affected siblings, not present in unaffected siblings)
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
leppa_16_ASD_discovery_cases-AU070703
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
leppa_16_ASD_discovery_cases-AU070705
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
maini_18_ASD/DD/ID_discovery_cases-case63
Paternal
Not simplex
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
pfundt_16_NDD_discovery_cases-case93
Array SNP (Affymetrix CytoScan HD)
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
pinto_14_ASD_discovery_cases2-case2271_1
qPCR
Maternal
Simplex
(no siblings)
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
poultney_13_ASD_discovery_cases-case00HI1404A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
poultney_13_ASD_discovery_cases-case05HI4214A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,ADORA2B,TTC19,ZSWIM7,NCOR1
poultney_13_ASD_discovery_cases-case98HI0361A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF286A
poultney_13_ASD_discovery_cases-case98HI0624B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF286A
qiao_12_ASD_discovery_cases-case10-96A
QMPSF
Maternal
Unknown
Unknown
ZNF286A,TBC1D26,ADORA2B,ZSWIM7,TTC19,NCOR1
qiao_12_ASD_discovery_cases-case10-97A
QMPSF
Maternal
Unknown
Unknown
ZNF286A,TBC1D26,ADORA2B,ZSWIM7,TTC19,NCOR1
quintela_17_DD/ID_discovery_cases-caseID_70
Unknown
Unknown
LINC02087,SPECC1P1
quintela_17_DD/ID_discovery_cases-caseID_96
Maternal
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
rosenfeld_10_ASD_discovery_cases-case21667
FISH
Unknown
Unknown
Unknown
PMP22,TEKT3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-429
qPCR
Unknown
Unknown
Unknown
RPL9P2,CDRT4,TVP23C-CDRT4
sanders_11_ASD_discovery_cases-11001.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11013.p1
Paternal
Simplex (quad-proband matched)
Segregated
LINC02093
sanders_11_ASD_discovery_cases-11041.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CDRT15P2,TBC1D26
sanders_11_ASD_discovery_cases-11046.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11098.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CDRT15P2,TBC1D26
sanders_11_ASD_discovery_cases-11108.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11122.p1
Maternal
Simplex (trio)
NA
COX10-AS1,CDRT15P1
sanders_11_ASD_discovery_cases-11150.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11158.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDRT15P2,TBC1D26
sanders_11_ASD_discovery_cases-11188.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11216.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11216.p1
Paternal
Simplex (quad-proband matched)
Not segregated
COX10-AS1
sanders_11_ASD_discovery_cases-11390.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11445.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11471.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11512.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11522.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11550.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CDRT15P2,TBC1D26
sanders_11_ASD_discovery_cases-11765.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11982.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11996.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12052.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12173.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12252.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CDRT15P2,TBC1D26
sanders_11_ASD_discovery_cases-12423.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12445.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UBE2SP1,ZNF286A
sanders_11_ASD_discovery_cases-12492.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR1269B,ELAC2,ARHGAP44
sanders_11_ASD_discovery_cases-12691.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12703.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12717.p1
Paternal
Simplex (trio)
NA
LINC02093
sanders_11_ASD_discovery_cases-12851.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12858.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CDRT15P2,TBC1D26
sanders_11_ASD_discovery_cases-12924.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
sanders_11_ASD_discovery_cases-13039.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13136.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDRT15P2,TBC1D26
sanders_11_ASD_discovery_cases-13153.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UBE2SP1,ZNF286A
sanders_11_ASD_discovery_cases-13367.p1
Maternal
Simplex (trio)
NA
sansovic_17_DD/ID/ASD_discovery_cases-case31
Maternal
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
schaaf_12_ASD/DD/ID_discovery_cases-caseE1
Unknown
Unknown
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
szatmari_07_ASD_discovery_cases-NAAR001-D12-8012-111
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,LINC02096,CDRT8,PMP22,TEKT3
szatmari_07_ASD_discovery_cases-NAAR001-E1-8012-201
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,LINC02096,CDRT8,PMP22,TEKT3
szatmari_07_ASD_discovery_cases-NAAR028-B4-3135.002
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,LINC02096,CDRT8,PMP22,TEKT3
szatmari_07_ASD_discovery_cases-NAAR028-C4-3135.003
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,LINC02096,CDRT8,PMP22,TEKT3
szatmari_07_ASD_discovery_cases-NAAR028-D4-3135.004
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,LINC02096,CDRT8,PMP22,TEKT3
szatmari_07_ASD_discovery_cases-NAAR068-B11-HI1405
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,LINC02096,CDRT8,PMP22,TEKT3
szatmari_07_ASD_discovery_cases-NAAR068-B12-HI1404
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,LINC02096,CDRT8,PMP22,TEKT3
xu_16_ASD/DD/ID_discovery_cases-case30
Maternal
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
yin_16_ASD_discovery_cases-case513
Unknown
Unknown
Unknown
MIR548H3,HS3ST3A1
yuan_15_DD_discovery_cases-caseBAB1229
Long-range PCR
De novo
yuan_15_DD_discovery_cases-caseBAB1458
De novo
MIR548H3,CDRT15,MGC12916,RPS18P12,HS3ST3B1,HS3ST3A1,COX10-AS1,CDRT15P1,COX10
yuan_15_DD_discovery_cases-caseBAB2211
De novo
ARHGAP44
yuan_15_DD_discovery_cases-caseBAB2337
FISH, Long-range PCR
De novo
RNU11-2P,MIR744,MIR1269B,MIR548H3,ZNF18,ELAC2,LINC02093,DNAH9,MAP2K4,MYOCD,ARHGAP44,HS3ST3A1,LINC00670
yuan_15_DD_discovery_cases-caseBAB2337
FISH, Long-range PCR
De novo
yuan_15_DD_discovery_cases-caseBAB2711
Long-range PCR
De novo
yuan_15_DD_discovery_cases-caseBAB2790
Unknown
MIR1269B,ELAC2,MYOCD,ARHGAP44,LINC00670
yuan_15_DD_discovery_cases-caseBAB527
De novo
RNU11-2P,MIR744,MIR1269B,MIR548H3,CDRT15,MGC12916,RN7SL601P,ZNF18,ELAC2,LINC02093,HS3ST3B1,DNAH9,MAP2K4,MYOCD,ARHGAP44,HS3ST3A1,COX10-AS1,CDRT15P1,COX10,SHISA6,LINC00670
yuan_15_DD_discovery_cases-caseBAB6504
De novo
COX10-AS1
yuen_17_ASD_discovery_cases-caseAU070703
Not available
Paternal
Multiplex
Not segregated
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
yuen_17_ASD_discovery_cases-caseAU3006301
Not available
Unknown
Multiplex
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
yuen_17_ASD_discovery_cases-caseAU4463303
Not available
Putative De novo
Simplex
Possibly segregated
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case18
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB253338_1007841376
Unknown
MIR744,MAP2K4,MYOCD,LINC00670
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
Unknown
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
Unknown
CDRT15,MGC12916,HS3ST3B1,COX10
engchuan_15_ASD_discovery_controls-controlB563561_1007874280
Unknown
LINC02093
engchuan_15_ASD_discovery_controls-controlHABC_900299_900299
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
engchuan_15_ASD_discovery_controls-controlHABC_900800_900800
Unknown
LINC02093
engchuan_15_ASD_discovery_controls-controlHABC_902583_902583
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
engchuan_15_ASD_discovery_controls-controlHABC_902652_902652
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
girirajan_13a_ASD_discovery_controls3-control24
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
girirajan_13a_ASD_discovery_controls3-control25
Unknown
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TEKT3,CDRT4,TVP23C-CDRT4
guo_17_ASD_discovery_controls-controlPY2576
qPCR
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
kanduri_15_ASD_discovery_controls-control_split1877
Unknown
CDRT15,CDRT4,COX10,HS3ST3B1,PMP22,TEKT3,TVP23C,TVP23C-CDRT4
kanduri_15_ASD_discovery_controls-control_split282
Unknown
Intergenic CNV: nearest genes, CDRT8(dist=35300),PMP22(dist=74858)
kanduri_15_ASD_discovery_controls-control_split326
Unknown
Intergenic CNV: nearest genes, CDRT8(dist=35300),PMP22(dist=74858)
krumm_13_ASD_discovery_controls-control11067.s1
Maternal
Simplex
DNAH9
krumm_15_ASD_discovery_controls-control12924.s1
Illumina 1MDuo
Maternal
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
krumm_15_ASD_discovery_controls-control14491.s1
Omni2.5-4v1
Maternal
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
kushima_18_ASD/SCZ_discovery_controls-controlCON0043
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
levy_11_ASD_discovery_controls-11067.s1
Maternal
Simplex
NA
DNAH9
poultney_13_ASD_discovery_controls-control05C43915
Unknown
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4
sanders_11_ASD_discovery_controls-11048.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11067.s1
Maternal
Simplex (quad)
NA
DNAH9
sanders_11_ASD_discovery_controls-11141.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11216.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11216.s1
Paternal
Simplex (quad)
NA
COX10-AS1
sanders_11_ASD_discovery_controls-11239.s1
Paternal
Simplex (quad)
NA
CDRT15P2,TBC1D26
sanders_11_ASD_discovery_controls-11424.s1
Paternal
Simplex (quad)
NA
UBE2SP1,ZNF286A
sanders_11_ASD_discovery_controls-11512.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11522.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11550.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11597.s1
Paternal
Simplex (quad)
NA
COX10
sanders_11_ASD_discovery_controls-11657.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11954.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11999.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12001.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12173.s1
Maternal
Simplex (quad)
NA
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
sanders_11_ASD_discovery_controls-12334.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12456.s1
Paternal
Simplex (quad)
NA
UBE2SP1,ZNF286A
sanders_11_ASD_discovery_controls-12691.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12851.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12924.s1
Maternal
Simplex (quad)
NA
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1
sanders_11_ASD_discovery_controls-12925.s1
Paternal
Simplex (quad)
NA
LINC02093
sanders_11_ASD_discovery_controls-13070.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13120.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13136.s1
Maternal
Simplex (quad)
NA
CDRT15P2,TBC1D26
sanders_11_ASD_discovery_controls-13153.s1
Paternal
Simplex (quad)
NA
UBE2SP1,ZNF286A
No Animal Model Data Available