7q11.22CNV Type: Deletion-Duplication
Largest CNV size: 1021000 bp
Statistics Box:
Number of Reports: 40
Number of Reports: 40
Summary Information
Duplications at the 7q11.22 locus have been observed far more frequently than deletions in autistic cohorts. CNVs at this locus have been found within or adjacent to the AUTS2 gene.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
Duplication
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion
De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literatu...
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Deletion
De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role...
Deletion
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenot
Deletion-Duplication
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
amarillo_14_DD_discovery_cases
4.5-year-old female patient referred to UCLA Medical Genetics Clinic due to significant speech and language delays of unknown etiology
1
Developmental delay (esp. significant speech and language delays), history of tonic-clonic movements, and pes planus with eversion of the feet.
4.5 yrs.
Female
62000
1
0
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
8000
1
0
1
ben-david_11_ASD_discovery_cases
Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.
17
Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3
70.59% Male
140000
0
1
1
beunders_13_DD/ID/ASD_discovery_cases
Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
49684
Intellectual disability and/or mulitple congenital anomalies
NA
NA
3335223
43
0
43
beunders_14_DD/ID_discovery_cases
Second child of healthy non-consanguineous parents with a healthy older brother
1
Intellectual disability (IQ estimated to be 60-70 at 20 years of age) and autistic features (poor interaction with peers, obsessions, stereotypic behavior and movements)
20 yrs.
Male
229400
1
0
1
bowling_17_DD/ID_discovery_cases
Individuals affected by developmental delay and/or intellectual disability and enrolled at North Alabama Children's Specialists (Huntsville, Alabama, USA)
371
Developmental delay (DD) and/or intellectual disability (ID); seizures in 45.3% of cases, ASD in 25.6% of cases
Average age of 10.56 yrs. (range: 2-54 yrs.)
57.7% Male
3000001
1
0
1
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
39840
1
1
2
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
330809
4
0
4
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
348
0
1
1
cusco_09_ASD_discovery_cases
74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
96
ASD
87.5% Male
325359
0
1
1
cusco_09_ASD_replication_cases
Replication cohort of ASD patients
215
ASD
325359
0
0
0
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
230812
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
454564
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
579299
5
19
24
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
605
1
0
1
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
491000
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
2051941
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
113626
1
1
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.
314638
0
2
2
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
2598157
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
298000
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
840797
2
0
2
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
390729
0
0
0
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
390729
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
830620
1
0
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
64000
1
0
1
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
30168
0
1
1
jolley_13_DD/ID_discovery_cases
13-year-old male patient with developmental delay/intellectual disability and other phenotypic features (assessed by facilities in North Adelaide, South Australia, Australia)
1
Developmental delay (DD), intellectual disability (ID), short stature, ptosis, and mild dysmorphic features
13 yrs.
Male
806000
1
0
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
1447970
7
3
10
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
23169
0
2
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
2100000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
209304
1
2
3
liu_15_ASD/DD_discovery_cases
First child born to healthy unrelated parents presenting with ASD and developmental delay
1
Diagnosis of ASD according to DSM-IV criteria; severity of developmental delay evaluated by Gesell Developmental Observation-Revised (GDO-R)
4 yrs.
Male
830000
1
0
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
27000
1
0
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
1021000
0
1
1
nagamani_12_ASD/DD/ID_discovery_cases
DNA samples from patients with ASD, DD, or ID screened for CNVs involving the AUTS2 gene; 6 patients identified with AUTS2 CNVs (only 4 described in report)
6054
ASD, developmental delay (DD), or intellectual disability (ID).
NA
NA
319000
2
2
4
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
42460
0
4
4
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
137645
5
1
6
sanchez-jimeno_21_ADHD/DD_discovery_cases
Individuals with 7q11.22 copy number variants identified following a retrospective review of over 2000 patients with neurodevelopmental disorders from Fundacion Jimenez Diaz Hospital (Madrid, Spain).
2
Both cases presented with ASD or autistic features; one case also presented with developmental delay (DD), while the other case presented with ADHD and oppositional defiant disorder.
Range, 5 yrs. 5 mos.-12 yrs. 1 mo.
NA
1552996
1
1
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
267961
5
10
15
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
43000
1
0
1
tropeano_13_DD/ASD_discovery_cases
Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
10397
Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
N/A
63.4% Male
2670356
1
0
1
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
340499
4
1
5
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
428368
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
beunders_13_DD/ID/ASD_discovery_controls
Control cohort comprised of Ottawa Heart Institute (OHI) controls from Canada (n=1234), POPGEN controls from Germany (n=1123), SAGE controls from the United States (n=1287), Welcome Trust (WTCCC) controls (n=4783), HapMap Phase 3 controls (n=1056), Lowlands Consortium controls (n=981), and a combined adult controls set (HGDP, NINDS, and others; n=6239)
16784
Control
NA
NA
140726
9
0
9
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
39840
1
0
1
cusco_09_ASD_discovery_controls
Control individuals matched for population ancestry
52
Control
51.9% Male
325359
0
0
0
cusco_09_ASD_replication_controls
Replication control cohort
120
Control
325359
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
357930
9
14
23
gai_11_ASD_discovery_controls
Samples recruited from visits conducted within CHOP healthcare network
1775
Controls: patients screened for having no chronic illness/health issues as well as autism
Range, 3-18 yrs.
N/A
0
gai_11_ASD_replication_controls
Healthy individuals comprising the CHOP CNV resource
2026
Controls
N/A
1
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.
314638
0
0
0
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
2598157
NA
NA
NA
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
196983
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
370171
0
1
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
37364
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
33403
1
0
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
50251
1
1
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
137645
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
536404
6
7
13
tropeano_13_DD/ASD_discovery_controls
Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
11277
Control
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
amarillo_14_DD_discovery_cases
N/A
Array SNP
Affymetrix 6.0, Affymetrix CytoScan
Affymetrix Genotyping Console v.4.1, Affymetrix ChAS v.1.2.2, Partek Genomic Suite
None
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
ben-david_11_ASD_discovery_cases
Array SNP
Affymetrix 6.0
Canary, PennCNV
Affymetrix Genotyping Console
MLPA
beunders_13_DD/ID/ASD_discovery_cases
NA
aCGH, array SNP, solid phase hybridization
Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
FISH, MLPA, aCGH
beunders_14_DD/ID_discovery_cases
European
Solid phase hybridization
Illumina HumanCytoSNP-12
CNV-WebStore
None
bowling_17_DD/ID_discovery_cases
N/A
CMA, WGS
Microarray platform N/A, WGS platform Illumina HiSeq Xs
None
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
cusco_09_ASD_discovery_cases
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
PennCNV
CNV partition
MLPA, aCGH, array SNP
cusco_09_ASD_replication_cases
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
aCGH (Agilent hotspot 2x400K)
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
jolley_13_DD/ID_discovery_cases
Australia
aCGH
BlueGnome Cytochip oligo ISCA 8x60K
qPCR, FISH
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
liu_15_ASD/DD_discovery_cases
Chinese
Array SNP
Affymetrix 6.0
Affymetrix Command Console v.3.1
Real-time qPCR
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
nagamani_12_ASD/DD/ID_discovery_cases
NA
aCGH
Agilent custom-designed array with ~180000 oligos designed in Medical Genetics Laboratory (MGL) at Baylor College of Medicine (BCM)
FISH or exon-targeted aCGH
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanchez-jimeno_21_ADHD/DD_discovery_cases
Spain
aCGH
PerkinElmer aCGX 60K
NA
PerkinElmer Genoglyphix
None
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
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
tropeano_13_DD/ASD_discovery_cases
70% Caucasian, 15% African, 15% other/mixed ancestry
aCGH
Agilent 60K
Feature Extraction, DNA Analytics
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
beunders_13_DD/ID/ASD_discovery_controls
NA
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Illumina 240K-650K, Agilent 105K/185K
None
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
cusco_09_ASD_discovery_controls
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
cusco_09_ASD_replication_controls
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_controls
1005 European descent, 723 African descent, 47 Asian descent
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_controls
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
tropeano_13_DD/ASD_discovery_controls
77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
Solid phase hybridization
Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
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
amarillo_14_DD_discovery_cases-case1
4.5 yrs.
F
Developmental delay
Birth/neonatal history: born by normal vaginal delivery at term following uncomplicated pregnancy; no medical problems reported during first 6 months of life besides severe constipation and constant drooling. Developmental milestones: said first few months at 10-12 months, started speech therapy at 18 months of age; walking at 18 months, toilet trained at 4.5 years of age. Language and communication evaluation: currently unable to make full sentences. Motor and musculoskeletal evaluation: pes lanus with eversion of the feet; presented with tonic-clonic movements, lasting for up to a minute and followed by period of decreased alertness, at 3 years of age. Behavioral/psychiatric evaluation: N/A. Brain imaging: normal CT scan. Other features: normal neurological exams. Dysmorphic features: no dysmorphic facial features. Family history: N/A.
Developmental delay
70670275
70732598
62324
GRCh38
Deletion
No
asadollahi_14_NDD_discovery_cases-case58822
3 yrs.
M
Developmental delay
Mild developmental delay, microcephaly, growth deficiency, cryptorchidism, bilateral inguinal and umbilical hernia; affected father
70130280
70137919
7640
GRCh38
Deletion
Yes
ben-david_11_ASD_discovery_cases-proband13
NA
NA
ASD
NA
NA
69455261
69595511
140000
Unknown
Duplication
Yes
beunders_13_DD/ID/ASD_discovery_cases-case1
3 yrs.
M
DD/ID
Birth/neonatal history: normal birth weight, no feeding difficulties. Neurodevelopmental disorders: none reported. Neurological disorders: none reported. Dysmorphic features: none reported. Skeletal disorders: none reported. Congenital malformations: no reported. Growth parameters: No short stature or microcephaly. Family history: unaffected father carries 7q11.22 deletion.
Mild developmental delay/intellectual disability
69787450
69968030
180581
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case10
2 yrs. 1 mo.
F
DD/ID
Birth/neonatal history: low birth weight, no feeding difficulties. Neurodevelopmental disorders: none reported. Neurological disorders: structural brain anomaly (hyperintense signal in periventricular white matter), cerebral palsy/spasticity. Dysmorphic features: epicanthal fold, strabismus, prominent nasal tip, anteverted nares, ear pit, narrow mouth. Skeletal disorders: mild kyphosis/scoliosis, tight heel cords. Congenital malformations: hernia umbilicalis/inguinalis/sacral dimple. Growth parameters: short stature (<10th %ile), microcephaly (<2nd %ile). Family history: N/A.
Mild-to-moderate developmental delay/intellectual disability
70441332
70771933
330602
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case11
1 yr. 11 mos.
F
DD/ID
Birth/neonatal history: normal birth weight, no feeding difficulties. Neurodevelopmental disorders: none reported. Neurological disorders: generalized hypotonia, cerebral palsy/spasticity. Dysmorphic features: highly arched eyebrows, proptosis, epicanthal fold. Skeletal disorders: metopic synostosis. Congenital malformations: none reported. Growth parameters: short stature (<10th %ile), microcephaly (<2nd %ile). Family history: N/A.
Mild developmental delay/intellectual disability
70590001
70789558
199558
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case12
7 yrs. 2 mos.
F
DD/ID
Birth/neonatal history: low birth weight, feeding difficulties. Neurodevelopmental disorders: autism/autistic behavior. Neurological disorders: generalized hypotonia, structural brain anomaly, cerebral palsy/spasticity. Dysmorphic features: hypertelorism. Skeletal disorders: tight heel cords. Congenital malformations: premature birth; intraventricular hemorrhage. Growth parameters: normal stature and OFC. Family history: N/A.
Developmental delay/intellectual disability
70724973
70799817
74845
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case13
5 yrs. 7 mos.
M
DD/ID
Birth/neonatal history: normal birth weight, feeding difficulties. Neurodevelopmental disorders: autism/autistic behavior, almost no speech. Neurological disorders: generalized hypotonia, cerebral palsy/spasticity, ataxic gait. Dysmorphic features: highly arched eyebrows, hypertelorism, proptosis, ptosis, epicanthal fold, deep/broad nasal bridge, short/upturned philtrum, micro/retrognathia, narrow mouth, prominent lips. Skeletal disorders: none reported. Congenital malformations: hernia umbilicalis/inguinalis, patent foramen ovale/atrial septal defect. Growth parameters: short stature (<10th %ile), microcephaly (<2nd %ile). Family history: N/A.
Severe developmental delay/intellectual disability
70752696
70956658
203963
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case14
9 yrs. 1 mos.
F
DD/ID
Birth/neonatal history: low birth weight, no feeding difficulties. Neurodevelopmental disorders: sound sensitivity, hyperactivity/ADHD. Neurological disorders: cerebral palsy/spasticity. Dysmorphic features: deep/broad nasal bridge, large tongue. Skeletal disorders: tight heel cords, 5th finger clinodactyly. Congenital malformations: none reported. Growth parameters: normal stature & OFC. Family history: N/A.
Developmental delay/intellectual disability
68600170
71273605
2673436
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case15
4 yrs. 9 mos.
M
DD/ID
Birth/neonatal history: normal birth weight, feeding difficulties. Neurodevelopmental disorders: sound sensitivty. Neurological disorders: generalized hypotonia, cerebral palsy/spasticity. Dysmorphic features: hypertelorism, short up-slanting palpebral fissures, deep/broad nasal bridge, short/upturned philtrum, micro/retrognathia, narrow mouth, prominent cheeks. Skeletal disorders: tight left heel cord. Congenital malformations: patent foramen ovale/atrial septal defect, hypospadias, eventration of diaphragm (right). Growth parameters: short stature (<10th %ile), microcephaly (<2nd %ile). Family history: N/A.
Mild developmental delay/intellectual disability
68729399
72064624
3335226
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case17
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69598655
70645834
1047180
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case18
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69678867
70531662
852796
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case19
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70501357
70714619
213263
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case2
3 yrs.
F
DD/ID
Birth/neonatal history: no feeding difficulties, low birth weight unknown. Neurodevelopmental disorders: none reported. Neurological disorders: structual brain anomaly (white matter abnormalities), cerebral palsy/spasticity. Dysmorphic features: ptosis, strabismus. Skeletal disorders: none reported. Congenital malformations: none reported. Growth parameters: short stature (<10th %ile) not determined. Family history: N/A.
Developmental delay/intellectual disability
70044793
70154122
109330
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case20
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70542777
70735586
192810
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case21
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70665229
70755730
90502
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case22
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70598295
70765615
167321
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case23
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70717698
70767979
50282
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case24
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
68732838
71659559
2926722
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case25
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69706403
69814173
107771
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case26
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69665532
69717888
52357
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case27
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69725539
69784549
59011
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case28
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69766869
69809737
42869
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case29
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69826368
69856066
29699
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case3
2 yrs. 6 mos.
M
DD/ID
Birth/neonatal history: low birth weight, no feeding difficulties. Neurodevelopmental disorders: autism/autistic behavior. Neurological disorders: none reported. Dysmorphic features: strabismus. Skeletal disorders: none reported. Congenital malformations: none reported. Growth parameters: short stature (<10th %ile), microcephaly (<2nd %ile), . Family history: N/A.
Developmental delay/intellectual disability
70077346
70310765
233420
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case30
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70124896
70308990
184095
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case31
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70163299
70404821
241523
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case32
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69899864
69984752
84889
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case33
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69937100
70088539
151440
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case34
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
69938842
70071745
132904
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case35
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70031393
70100631
69239
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case36
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70036232
70127913
91682
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case37
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70206080
70261396
55317
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case38
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70239087
70360833
121747
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case39
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70444415
70542837
98423
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case4
2 yrs. 4 mos.
F
DD/ID
Birth/neonatal history: normal birth weight, no feeding difficulties. Neurodevelopmental disorders: none reported. Neurological disorders: none reported. Dysmorphic features: proptosis, short palpebral fissures, narrow mouth, plachiocephaly, brachycephaly, facial asymmetry, prominent forehead. Skeletal disorders: none reported. Congenital malformations: patent foramen ovale/atrial septal defect, unilateral cleft lip. Growth parameters: microcephaly (<2nd %ile). Family history: mother with borderline-to-mild developmental delay/intellectual disability and some facial dysmorphisms.
Developmental delay/intellectual disability
70106124
70161641
55518
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case40
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70444415
70542837
98423
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case41
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70717757
70765557
47801
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case42
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70717698
70765615
47918
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case43
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70717698
70765615
47918
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_cases-case44
NA
F
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
70717698
70765615
47918
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case5
1 yr 7 mos.
F
DD/ID
Birth/neonatal history: normal birth weight, feeding difficulties. Neurodevelopmental disorders: autism/autistic behavior. Neurological disorders: generalized hypotonia. Dysmorphic features: highly arched eyebrows, short palpebral fissures, epicanthal fold, deep/broad nasal bridge, short/upturned philtrum, narrow mouth. Skeletal disorders: mild pectus carinatum. Congenital malformations: none reported. Growth parameters: microcephaly (<2nd %ile). Family history: N/A.
Developmental delay/intellectual disability
67898655
70219977
2321323
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case6
2 yrs. 3 mos.
F
DD/ID
Birth/neonatal history: low birth weight, feeding difficulties. Neurodevelopmental disorders: none reported. Neurological disorders: none reported. Dysmorphic features: highly arched eyebrows, hypertelorism, proptosis, short palpebral fissures, ptosis, strabismus, prominent nasal tip, short/upturned philtrum, micro/retrognathia, low-set ears, narrow mouth, low columella. Skeletal disorders: none reported. Congenital malformations: none reported. Growth parameters: short stature (<10th %ile), microcephaly (<2nd %ile). Family history: sister with mild-to-moderate developmental delay/intellectual disability, hyperactivity/ADHD, short stature, microcephaly, and dysmorphic features; mother with mild developmental delay/intellectual disability, short stature, and dysmorphic features (both carry 7q11.22 deletion).
Mild developmental delay/intellectual disability
70372862
70724326
351465
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case7
5 yrs. 6 mos.
M
DD/ID
Birth/neonatal history: no feeding difficulties, low birth weight not determined. Neurodevelopmental disorders: hyperactivity/ADHD. Neurological disorders: cerebral palsy/spasticity. Dysmorphic features: epicanthal fold, deep/broad nasal bridge, narrow mouth, downslant. Skeletal disorders: tight heel cords. Congenital malformations: none reported. Growth parameters: short stature (<10th %ile), microcephaly (<2nd %ile). Family history: N/A.
Developmental delay/intellectual disability
70445885
70792748
346864
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case8
11 mos.
M
DD/ID
Birth/neonatal history: normal birth weight, no feeding difficulties. Neurodevelopmental disorders: possible autism/autistic behaviors. Neurological disorders: cerebral palsy/spasticity. Dysmorphic features: hypertelorism, epicanthal fold, micro/retrognathia, low-set ears, large hands and feet. Skeletal disorders: none reported. Congenital malformations: none reported. Growth parameters: short stature (<10th %ile), microcephaly (<2nd %ile). Family history: N/A.
Developmental delay/intellectual disability
70550631
70727640
177010
GRCh38
Deletion
Yes
beunders_13_DD/ID/ASD_discovery_cases-case9
32 yrs.
F
DD/ID
Birth/neonatal history: normal birth weight, feeding difficulties. Neurodevelopmental disorders: autism/autistic behavior. Neurological disorders: generalized hypotonia. Dysmorphic features: highly arched eyebrows, hypertelorism, proptosis, short up-slanting palpebral fissures, ptosis, strabismus, prominent nasal tip, anteverted nares, deep/broad nasal bridge, short/upturned philtrum, micro/retrognathia, low-set ears, narrow mouth, short forehead. Skeletal disorders: kyphosis/scoliosis, arthrogryposis/shallow palmar creases. Congenital malformations: none reported. Growth parameters: short stature (<10th %ile), microcephaly (<2nd %ile). Family history: N/A.
Moderate developmental delay/intellectual disability
70493590
70775324
281735
GRCh38
Deletion
Yes
beunders_14_ID_discovery_cases_proband2
20 yrs.
M
Intellectual disability and autistic features
Birth/neonatal history: uneventful pregnancy and delivery; birth weight of 3200 g (15th %ile), length of 49 cm (10th %ile), and head circumference of 34 cm (25th %ile) at gestational age of 40 weeks; Apgar scores of 2/5/10 after 1, 5, and 10 minutes; feeding difficulties and poor weight gain; failure-to-thrive; hypertonia and joint contractures as an infant that improved with physiotherapy; frequent infections as an infant. Developmental milestones: delayed social and motor development; walking at age of 2 years. Motor and musculoskeletal evaluation: stiff and immature movements, poor coordination, mild peripheral hypotonia, high refelxes at Achilles tendon, clonus of right ankle; long and narrow hands with absent/shallow dermatoglyphics of distal interphalangeal joints (shallow palmar creases), highly arched feet, hammer toes, valgus deformity of left foot. Behavioral/psychiatric evaluation: autistic features (poor interaction with peers, obsessions, stereotypic behavior and movements); personality described as kind and calm. EEG: normal (age of 2 years 10 months). Brain imaging: normal brain CT and MRI (age of 2 years 10 months). Visual evaluation: normal visual evoked potential (at age of 2 years 10 months); strabismus. Dysmorphic features: mild brachycephaly, low frontal hairline, thick hair, highly arched eyebrows, short palpebral fissures, mild ptosis, low-set and small ears, prominent nasal tip, low nasal bridge, broad nasal base, short philtrum, thick lips. Growth parameters: height of 175 cm (-1 SD), weight of 52.5 kg (-2 SD), and head circumference of 52 cm (-3.2 SD) at age of 20 years. Family history: second child of healthy non-consanguineous parents; healthy older brother.
Intellectual disability (IQ estimated to be 60-70 at 20 years of age); IQ of 74 (verbal IQ 87; performance IQ 64) at age of 5 years
70526873
70756273
229401
GRCh38
Deletion
No
bowling_17_DD/ID_discovery_cases-case00186-C
N/A
N/A
Intellectual disability
Intellectual disability (moderate); Facial dysmorphism; Speech delay; Small stature; Strabismus; Small for gestational age
Moderate intellectual disability
69535014
72535015
3000002
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseREACH000643
N/A
M
ASD
Case from REACH cohort
67583137
67583324
188
GRCh38
Duplication
Yes
brandler_18_ASD_discovery_cases-caseSSC04977
N/A
M
ASD
Case from SSC_phase1 cohort
70719790
70759630
39841
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case1-0485-003
N/A
F
ASD
Case from MSSNG cohort
70441028
70771836
330809
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3779301
N/A
M
ASD
Case from MSSNG cohort
69982782
70173496
190715
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3779302
N/A
F
ASD
Case from MSSNG cohort
69982782
70173496
190715
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3779304
N/A
M
ASD
Case from MSSNG cohort
69982782
70173496
190715
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11461
NA
M
ASD
NA
NA
72106060
72106408
349
GRCh38
Duplication
No
cusco_09_ASD_discovery_cases-AUT96
NA
M
Autism
Aggression, occasional self-injurious behavior
Severe MR
69630362
69955721
325359
Unknown
Duplication
Yes
du_21_ASD/DD/ID_discovery_cases-case29
3 yrs.
M
Congenital atresia of the esophagus, tracheomalacia, tracheoesophageal fistula, feeding difficulties, gastroesophageal reflux, abnormal posture, oropharyngeal phase dysphagia, mixed receptive-expressive language disorder.
70099514
70330325
230812
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA50
19 yrs. (born 1995)
M
ASD
Diagnosis: atypical autism. Co-morbidities/additional features: none reported. Family history: father committed suicide. 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.
Cognitive impairment (IQ 60)
69288571
69743134
454564
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case13107_1243
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70234088
70267606
33519
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14210_3370
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67014241
67380252
366012
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1966_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72538726
72842566
303841
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2072_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71311881
71383835
71955
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21002_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72538726
72842566
303841
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21043_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72352914
72389119
36206
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2200_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72538726
72842566
303841
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2290_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68251304
68332520
81217
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3583_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4140_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70575572
70616470
40899
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4174_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72538726
72842566
303841
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4215_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72538726
72842566
303841
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4296_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72538726
72842566
303841
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4393_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72538726
72835092
296367
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5040_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72538726
72842566
303841
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5061_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5253_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5289_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72538726
72842566
303841
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5297_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5352_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5447_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5559_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6048_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8484_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71502663
72081962
579300
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000046
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S52
N/A
70781385
70781990
606
GRCh38
Deletion
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR931
15 yrs.
F
ASD, developmental delay and epilepsy
Clinical features: severe developmental delay, ASD, dysmorphic features, microcephaly. Age of seizure onset: 12 years. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: generalized tonic-clonic seizures.
Severe developmental delay
72350185
72835092
484908
GRCh38
Deletion
Yes
gai_11_ASD_discovery_cases-AU1673302
Autism
66932381
68984321
2051941
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU067805
Autism
70592167
70664399
72233
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU1010301
Autism
70323246
70436871
113626
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si68
16
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
72539224
72816585
277362
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si72
17
M
Autism
ADOS score: 5. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 89; Non-verbal IQ, 102.
72507541
72816585
309045
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case29386
1 yr.
M
Developmental delay
Family history: father had developmental delay and learning disability; mother has dyslexia and memory problems, but was cognitively normal. All other measure not specified.
Developmental delay
69171475
71769634
2598160
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12831.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
70837078
71137078
300001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-52104101908
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69449233
70258616
809384
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-52104101908
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
69425207
70266004
840798
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU1673302
NA
ASD
NA
NA
69473632
69864361
390730
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-caseY20
4 yrs.
M
ASD and developmental delay
Developmental delay
68791697
69622316
830620
GRCh38
Deletion
No
hnoonual_17_ASD_discovery_cases-case2546
N/A
M
ASD and global developmental delay
Generalized hypotonia, clenched hands, microphthalmia, large ear
Global developmental delay
70253350
70318034
64685
GRCh38
Deletion
No
husson_20_ASD_discovery_cases-case326
9 yrs.
M
ASD
Diagnosis of ASD
70762896
70793063
30168
GRCh38
Duplication
Yes
jolley_13_DD/ID_discovery_cases-case1
13 yrs.
M
Developmental delay/intellectual disability
Birth/neonatal history: born at term following uncomplicated pregnancy and delivery; birth weight 5th-10th %ile, birth length 50th %ile; generally hypotonic and fed poorly from birth, requiring gavage feeding for first 2 weeks; tongue tie requiring correction. Developmental milestones: significantly delayed speech and fine motor skills (did not speak until 5 years of age, difficulty drawing until around 5 years of age). Motor and musculoskeletal evaluation: case not hypotonic at age of 11 years. Behavioral/psychiatric evaluation: seen by pediatrician at 4 years of age for autistic tendencies (assessed not to be autistic); described as very social and affectionate with a happy disposition. Epilepsy/seizures: one febrile seizure at 2 years of age; investigated for absence seizures due to staring episodes between ages 2-6 (normal EEG). Other features: normal hearing, but has sound sensitivity; history of frequent upper respiratory tract infections, poor weight gain and trouble with food (often choking and gagging on solids). Dysmorphic features: heart-shaped face, high broad forehead with bilateral cowlicks, soft fine hair, bilateral ptosis, large front teeth, extra teeth in upper jaw, prominent and slightly posteriorly rotated ears, mild retrognathia, arched eyebrows, shawl scotum. Growth parameters: height, weight, and head circumference <2 %ile. Family history: no contributory medical history.
Developmental delay/intellectual disability
69918695
70724944
806250
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001024
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72139800
72505698
365899
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001075
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70244387
70509722
265336
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001265
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70891025
71072442
181418
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001645
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70474584
70780410
305827
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002185
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69832264
69865810
33547
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002432
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72022091
72300628
278538
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002725
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70504645
70739562
234918
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004747
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70509663
71957634
1447972
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005243
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69918665
70724973
806309
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005384
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
71835105
72444532
609428
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13393.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
71787774
71810494
22721
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14206.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
70762869
70786038
23170
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU1673302
N/A
M
ASD
67830013
69881014
2051002
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11439.p1
NA
M
ASD
NA
NA
70270887
70304289
33403
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11714.p1
NA
M
ASD
NA
NA
71389580
71424763
35184
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11868.p1
NA
M
ASD
NA
NA
67427309
67636612
209304
GRCh38
Duplication
No
liu_15_ASD/DD_discovery_cases-case1
4 yrs.
M
ASD and DD
Diagnosis of ASD according to DSM-IV criteria; Clancy Autism Behavior Scale (CABS, Chinese version) test scores of 18. Birth/neonatal history: born by full-term normal delivery, birth weight 3400 g. Developmental milestones: delayed speech, with first babbling at about 2 years and first phrase at 4 years; started walking at 15 months with normal motor coordination. Language and communication evaluation: unable to make long sentences, grunts sounds involuntarily without active verbal interaction. Behavioral/psychiatric evaluation: appears to avoid gaze, but has no fear of strangers or unfamiliar environments; appeared to show no compassion towards parents; idiosyncratic attachment to objects; stereotypical actions; hyperactivity. EEG: normal. Hearing evaluation: Auditory Steady State Response (ASSR) showed slight hearing loss with Estimating Audiogram Thresholds 40 dB HL for left ear and 19 dB HL for right ear. Dysmorphic features: none. Family history: first child of healthy unrelated parents.
Development tested via Gesell Developmental Observation-Revised (GDO-R); language/cognition, adaptation, motor skills, and personal-social interactions were significantly delayed with developmental quotient (DQ) from 29 to 40 and developmental age (DA) from 11.3 months for language/cognition to 15.6 months for adaption in comparison to chronological age of 39 months.
68789858
69619423
829566
GRCh38
Deletion
Yes
monteiro_19_ASD_discovery_cases_case9
N/A
M
ASD and intellectual disability
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: none reported. Growth parameters: macrocephaly.
Intellectual disability
69777052
69804113
27062
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case3101
NA
M
ASD
Diagnosed with autistic disorder & seizures
NA
61077000
62098000
1021000
Unknown
Duplication
No
nagamani_12_ASD/DD/ID_discovery_cases-patient1
10 yrs.
F
Developmental delay
Birth/neonatal history: unremarkable prenatal and birth history. Developmental milestones: significantly delayed milestones (walking at 21 months, first words at 4 yrs.). Epilepsy/seizures: none. Brain imaging: normal. Other features: camptodactyly, mild scoliosis of thoracic spine, atrial septal defect.
Performance level of 5 yr. old (at testing age of 10 yrs.)
70647967
70781385
133419
GRCh38
Deletion
Yes
nagamani_12_ASD/DD/ID_discovery_cases-patient2
3 yrs.
F
Developmental delay
Developmental milestones: moderate-to-severe developmental delay (crawling at 14 months, standing at 17 months, walking at 2 yrs, first words at 2 yrs.). Language and communication evaluation: limited vocabulary of three words at age of 2.5 years. No craniofacial dysmorphisms or abnormalities on physical examination. Epilepsy/seizures: none. Brain imaging: normal.
Global developmental delay
70466196
70784810
318615
GRCh38
Deletion
Yes
nagamani_12_ASD/DD/ID_discovery_cases-patient3
NA
F
ASD
Diagnosis of pervasive developmental delay (PDD) based on qualitative impairments in social interaction & communication that included avoidance of eye contact, inconsistent responses to questions, inability to maintain conversation, repetitive language, and lack of social reciprocity. Epilepsy/seizures: none. Other features: radio-ulnar synostosis, microcephaly. Dysmorphic features: triangular facies, mid-face hypoplasia. Family history: brother with PDD, developmental delay, and generalized tonic-clonic seizures; mother with microcephaly and mild ID; phenotypically normal father.
Mild-to-moderate ID
70347991
70527409
179419
GRCh38
Duplication
Yes
nagamani_12_ASD/DD/ID_discovery_cases-patient4
16 yrs.
M
ASD
Diagnosis of pervasive developmental disorder (PDD). Developmental milestones: signficant language delay. Behavioral/psychiatric evaluation: significant impairment in social interaction, lack of emotional reciprocity, stereotypic motor movements. Epilepsy/seizures: generalized tonic-clonic seizures (began at age of 6 years); seizures well controlled by treatment with carbamazepine. Dysmorphic features: yes. Family history: sister with PDD and developmental delay; mother with microcephaly and mild ID; phenotypically normal father.
Developmental delay
70347991
70527409
179419
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5015_4
NA
M
ASD
NA
NA
70856657
70899116
42460
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5061_3
NA
M
ASD
No epilepsy, premature ( 28 wks), brain dysfunction, soft neurological signs, amblyopia, hair whorls, 5th finger clinodactyly, long 3rd toe, toe syndactyly
Below average IQ (<1%ile)
70856657
70899116
42460
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5297_3
NA
M
ASD
NA
NA
70856657
70899116
42460
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5447_3
NA
M
ASD
NA
NA
70856657
70899116
42460
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case144127
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
67869426
68007070
137645
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case58472L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
66422814
66446475
23662
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case65344
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
69822638
69861814
39177
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case66673
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
66428781
66455824
27044
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case69183
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
70408458
70424350
15893
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case80186
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
71459202
71471873
12672
Unknown
Deletion
No
sanchez-jimeno_21_ADHD/DD_discovery_cases-caseRM-1003
5 yrs. 5 mos.
NA
Developmental delay and autistic features
Short stature, microcephaly, global developmental delay/intellectual disability, ASD/autistic features, hyperactivity/ADHD, two cafe-au-lait spots; indication for genetic study was developmental delay and inattention.
68302975
69855970
1552996
GRCh38
Duplication
No
sanchez-jimeno_21_ADHD/DD_discovery_cases-caseRM-299
12 yrs. 1 mo.
NA
ADHD, oppositional defiant disorder, and autistic features
ASD/autistic features, hyperactivity/ADHD, oppositional defiant disorder, aggressive behavior, tics, two cafe-au-lait spots; indication for genetic study was behavioral problems and ADHD.
70099275
70127745
28471
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
67321387
67343695
22309
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11060.p1
6.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
71781969
71801548
19580
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11353.p1
5.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64
71781969
71801548
19580
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11516.p1
12.8
M
Aspergers
NA
Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
70856657
70899116
42460
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
71781969
71801548
19580
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
71395266
71425054
29789
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
70871132
70899116
27985
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12211.p1
6.2
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82
70856657
70899116
42460
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
70856657
70899116
42460
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12434.p1
5.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
69980540
70010060
29521
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
72352914
72389119
36206
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12498.p1
10.9
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 67; verbal IQ, 63
70719799
70763034
43236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12606.p1
11.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
67865596
67877799
12204
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12831.p1
4.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 94; verbal IQ, 64
70848879
71116840
267962
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12925.p1
13.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
71780155
71801548
21394
GRCh38
Duplication
No
shen_10_ASD_discovery_cases-ASD-09-043
NA
M
PDD-NOS
NA
NA
70372428
70416289
43862
GRCh38
Deletion
No
tropeano_13_DD/ASD_discovery_cases-case29
2 yrs.
M
Developmental delay
Developmental delay, microcephaly
Developmental delay
69099136
71769494
2670359
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0485-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
70441015
70771836
330822
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case1-0736-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
70726515
71067014
340500
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-caseAU3779301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
69982783
70173514
190732
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU3779302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
69982215
70174014
191800
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU3779304
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
69982783
70173514
190732
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0736-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
70724326
71068235
343910
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-1042-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
70310284
70738651
428368
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
beunders_13_DD/ID/ASD_discovery_controls-control1
NA
NA
Control
Control from WTCCC2 (ID # BC1088)
70562576
70674338
111763
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_controls-control2
NA
NA
Control
Control from WTCCC2 (ID # BC0081)
69754945
69789254
34310
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_controls-control3
NA
NA
Control
Control from WTCCC2 (ID # NBS1906)
70225654
70366379
140726
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_controls-control4
NA
NA
Control
Control from WTCCC2 (ID # NBS1607)
69964750
70092044
127295
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_controls-control5
NA
NA
Control
Control from SAGE (ID # B556806)
69937775
70017659
79885
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_controls-control6
NA
NA
Control
Control from SAGE (ID # B847353)
70555174
70590840
35667
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_controls-control7
NA
NA
Control
Control from SAGE (ID # B415965)
70719799
70758207
38409
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_controls-control8
NA
NA
Control
Control from OHI (ID # CONT-1960)
70723350
70759757
36408
GRCh38
Deletion
No
beunders_13_DD/ID/ASD_discovery_controls-control9
NA
NA
Control
Control from OHI (ID # NCA06139)
70183225
70287155
103931
GRCh38
Deletion
No
brandler_18_ASD_discovery_controls-controlSSC04987
N/A
F
Control
Control from SSC_phase1 cohort
70719790
70759630
39841
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036014918_
N/A
N/A
Control
No previous psychiatric history
70719799
70758207
38409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036020626_
N/A
N/A
Control
No previous psychiatric history
70851379
71121081
269703
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB101412_1007873983
N/A
N/A
Control
No previous psychiatric history
72178070
72218522
40453
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB178414_0057061570
N/A
N/A
Control
No previous psychiatric history
72556486
72853415
296930
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB295219_1007872186
N/A
N/A
Control
No previous psychiatric history
70859875
70899116
39242
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB471933_1007872688
N/A
N/A
Control
No previous psychiatric history
69902014
70248146
346133
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB556806_1007854703
N/A
N/A
Control
No previous psychiatric history
69937775
70017659
79885
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB703094_1007854334
N/A
N/A
Control
No previous psychiatric history
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB726886_0067942660
N/A
N/A
Control
No previous psychiatric history
71190955
71293334
102380
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB846568_1007853715
N/A
N/A
Control
No previous psychiatric history
72538726
72853415
314690
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB847353_1007844832
N/A
N/A
Control
No previous psychiatric history
70555174
70602693
47520
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
N/A
N/A
Control
No previous psychiatric history
70859875
70899116
39242
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB954474_1007874921
N/A
N/A
Control
No previous psychiatric history
72538726
72842566
303841
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB979317_1007842460
N/A
N/A
Control
No previous psychiatric history
72503645
72842566
338922
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900196_900196
N/A
N/A
Control
No previous psychiatric history
72523346
72853415
330070
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900249_900249
N/A
N/A
Control
No previous psychiatric history
72523346
72853415
330070
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900299_900299
N/A
N/A
Control
No previous psychiatric history
72501080
72853415
352336
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901060_901060
N/A
N/A
Control
No previous psychiatric history
72538726
72853415
314690
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901161_901161
N/A
N/A
Control
No previous psychiatric history
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901254_901254
N/A
N/A
Control
No previous psychiatric history
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902572_902572
N/A
N/A
Control
No previous psychiatric history
67761906
67814371
52466
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902782_902782
N/A
N/A
Control
No previous psychiatric history
70856657
70899116
42460
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
N/A
N/A
Control
No previous psychiatric history
70856657
70899116
42460
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1894
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
71678513
71714102
35590
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split918
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
70375284
70572266
196983
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control14206.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
70762869
71133040
370172
GRCh38
Duplication
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0188
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
70405783
70443146
37364
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11439.s1
NA
M
Control
NA
NA
70270887
70304289
33403
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27344
Control
71271613
71321863
50251
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28409
Control
69466743
69502379
35637
Unknown
Duplication
sanders_11_ASD_discovery_controls-11198.s1
8.8
F
Control (matched sibling)
NA
NA
67736660
67741722
5063
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11305.s1
18.3
M
Control (matched sibling)
NA
NA
68234187
68770100
535914
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
70278778
70304383
25606
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11673.s1
7.9
M
Control (matched sibling)
NA
NA
70856657
70899116
42460
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
67736660
67741722
5063
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11897.s1
8
M
Control (matched sibling)
NA
NA
70858782
70899116
40335
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11966.s1
16.3
M
Control (matched sibling)
NA
NA
70858782
70899116
40335
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12211.s1
11.2
F
Control (matched sibling)
NA
NA
70852741
70861489
8749
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12373.s1
11.7
F
Control (matched sibling)
NA
NA
70871132
70899116
27985
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12383.s1
12.8
M
Control (matched sibling)
NA
NA
70858782
70899116
40335
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
69980540
70010060
29521
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12498.s1
8.1
F
Control (matched sibling)
NA
NA
70719799
70765808
46010
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13222.s1
13.5
F
Control (matched sibling)
NA
NA
71780155
71801548
21394
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
amarillo_14_DD_discovery_cases-case1
De novo
N/A (possible simplex)
Unknown (possibly segregated)
AUTS2
asadollahi_14_NDD_discovery_cases-case58822
MLPA
Paternal
Paternal
Multi-generational (affected father)
Possibly segregated
AUTS2
ben-david_11_ASD_discovery_cases-proband13
MLPA
Maternal
Unknown
Unknown
AUTS2
Monoallelic expression of AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case1
MLPA
Paternal
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case10
MLPA
De novo
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case11
aCGH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case12
MLPA
De novo
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case13
MLPA
Unknown (not maternal)
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case14
MLPA
De novo
Unknown
Unknown
RNA5SP231,RNU6-832P,MTCO2P25,MTCO1P25,RNU6-229P,AUTS2,GALNT17
beunders_13_DD/ID/ASD_discovery_cases-case15
aCGH
De novo
Unknown
Unknown
RNU6-832P,MTCO2P25,MTCO1P25,RNU6-229P,MIR3914-1,MIR3914-2,RN7SKP75,RNA5SP232,AUTS2,GALNT17,CALN1
beunders_13_DD/ID/ASD_discovery_cases-case17
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case18
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case19
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case2
MLPA
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case20
FISH
De novo
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case21
Maternal
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case22
FISH
Paternal
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case23
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case24
De novo
Unknown
Unknown
RNU6-832P,MTCO2P25,MTCO1P25,RNU6-229P,MIR3914-1,MIR3914-2,AUTS2,GALNT17
beunders_13_DD/ID/ASD_discovery_cases-case25
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case26
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case27
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case28
Maternal
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case29
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case3
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case30
Maternal
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case31
MLPA
De novo
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case32
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case33
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case34
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case35
FISH
Maternal
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case36
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case37
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case38
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case39
FISH
Paternal
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case4
FISH
Possibly maternal
Maternal
Multi-generational
Possibly segregated
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case40
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case41
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case42
Maternal
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case43
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case44
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case5
FISH, aCGH
De novo
Unknown
Unknown
MTCO1P57,MTND4P3,RNA5SP231,RNU6-832P,MTCO2P25,MTCO1P25,RNU6-229P,AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case6
MLPA
Likely maternal
Maternal
Multi-generational
Possibly segregated
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case7
FISH
Unknown
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case8
FISH, aCGH
De novo
Unknown
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_cases-case9
MLPA
Unknown (not paternal)
Unknown
Unknown
AUTS2
beunders_14_ID_discovery_cases_proband2
De novo
Simplex
Segregated
AUTS2
bowling_17_DD/ID_discovery_cases-case00186-C
De novo
Likely segregated
MIR3914-1,MIR3914-2,RN7SKP75,RNA5SP232,ABCF2P2,AUTS2,GALNT17,CALN1
brandler_18_ASD_discovery_cases-caseREACH000643
PCR
De novo
brandler_18_ASD_discovery_cases-caseSSC04977
PCR or SNP data validation
Paternal
AUTS2
brandler_18_ASD_replication_cases-case1-0485-003
No validation step reported
De novo
AUTS2
brandler_18_ASD_replication_cases-caseAU3779301
No validation step reported
Maternal
AUTS2
brandler_18_ASD_replication_cases-caseAU3779302
No validation step reported
Maternal
AUTS2
brandler_18_ASD_replication_cases-caseAU3779304
No validation step reported
Maternal
AUTS2
celestino-soper_11_ASD_discovery_cases-11461
Unknown
Simplex
NA
CALN1
cusco_09_ASD_discovery_cases-AUT96
MLPA & aCGH (Agilent 44k or 244K)
Unknown
NA
NA
AUTS2
du_21_ASD/DD/ID_discovery_cases-case29
Unknown
AUTS2
egger_14_ASD_discovery_cases-caseA50
qPCR
Maternal
Not segregated (duplication found in unaffected brother)
MTCO2P25,MTCO1P25,RNU6-229P,AUTS2
engchuan_15_ASD_discovery_cases-case13107_1243
Unknown
AUTS2
engchuan_15_ASD_discovery_cases-case14210_3370
Unknown
MIR4650-1,SPDYE21P,PMS2P4,STAG3L4,TYW1
engchuan_15_ASD_discovery_cases-case1966_301
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_cases-case2072_1
Unknown
GALNT17
engchuan_15_ASD_discovery_cases-case21002_1
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_cases-case21043_1
Unknown
CALN1
engchuan_15_ASD_discovery_cases-case2200_1
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_cases-case2290_1
Unknown
MTND4P3
engchuan_15_ASD_discovery_cases-case3583_5
Unknown
engchuan_15_ASD_discovery_cases-case4140_1
Unknown
AUTS2
engchuan_15_ASD_discovery_cases-case4174_1
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_cases-case4215_1
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_cases-case4296_1
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_cases-case4393_1
Unknown
MIR4650-2,RN7SL377P,SBDSP1,TYW1B
engchuan_15_ASD_discovery_cases-case5040_5
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_cases-case5061_3
Unknown
engchuan_15_ASD_discovery_cases-case5253_3
Unknown
engchuan_15_ASD_discovery_cases-case5289_4
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_cases-case5297_3
Unknown
engchuan_15_ASD_discovery_cases-case5352_3
Unknown
engchuan_15_ASD_discovery_cases-case5447_3
Unknown
engchuan_15_ASD_discovery_cases-case5559_4
Unknown
engchuan_15_ASD_discovery_cases-case6048_4
Unknown
engchuan_15_ASD_discovery_cases-case8484_201
Unknown
RN7SKP75,RNA5SP232,GALNT17,CALN1
fitzgerald_14_ASD/DD/ID_discovery_cases-case000046
De novo
Unknown
Unknown
AUTS2
fry_16_DD/ID/EP/ASD_discovery_cases-caseR931
Solid phase hybridization (Illumina)
Paternal
MIR4650-2,RN7SL377P,SBDSP1,TYW1B,CALN1
gai_11_ASD_discovery_cases-AU1673302
Inherited
AUTS2
gai_11_ASD_replication_cases-AU067805
Inherited
WBSCR17 (intronic)
gai_11_ASD_replication_cases-AU1010301
Inherited
WBSCR17 (intronic)
girirajan_11_ASD_discovery_cases-Si68
Unknown
Simplex
MIR4650-2,TYW1B
girirajan_11_ASD_discovery_cases-Si72
Unknown
Simplex
MIR4650-2,TYW1B
girirajan_12_ASD/DD/ID_discovery_cases-case29386
FISH, aCGH, or confirmation by inheritance
Paternal
Unknown
Unknown
MTCO2P25,MTCO1P25,RNU6-229P,MIR3914-1,MIR3914-2,RN7SKP75,AUTS2,GALNT17
girirajan_13a_ASD_discovery_cases-12831.p1
Unknown
Simplex
Unknown
GALNT17
girirajan_13b_ASD_discovery_cases-52104101908
Unknown
Unknown
Unknown
AUTS2
girirajan_13b_ASD_discovery_cases-52104101908
aCGH (Agilent hotspot 2x400K)
De novo
Unknown
Unknown
AUTS2
glessner_09_ASD_replication_cases-AU1673302
Array SNP
Unknown
Unknown
NA
AUTS2
han_22_ASD/DD/ID_discovery_cases-caseY20
De novo
CT66,RNU6-832P,RNU6-229P,MTCO1P25,MTCO2P25,AUTS2
hnoonual_17_ASD_discovery_cases-case2546
Maternal
AUTS2
husson_20_ASD_discovery_cases-case326
ddPCR, QMPSF, or aCGH
Paternal
Simplex
Unknown
AUTS2
jolley_13_DD/ID_discovery_cases-case1
qPCR, FISH
De novo
Simplex
Segregated
AUTS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001024
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CALN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001075
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AUTS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001265
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001645
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
AUTS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002185
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
AUTS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002432
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ABCF2P2,CALN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002725
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
AUTS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004747
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3914-1,MIR3914-2,RN7SKP75,RNA5SP232,AUTS2,GALNT17,CALN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005243
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AUTS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005384
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP232,ABCF2P2,CALN1
krumm_15_ASD_discovery_cases-case13393.p1
1M-Duov3
Maternal
Simplex
Segregated
CALN1
krumm_15_ASD_discovery_cases-case14206.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
AUTS2
leppa_16_ASD_discovery_cases-AU1673302
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
MTCO1P57,MTND4P3,RNA5SP231,RNU6-832P,MTCO2P25,MTCO1P25,RNU6-229P,AUTS2
levy_11_ASD_discovery_cases-11439.p1
Paternal
Simplex
Not segregated
AUTS2
levy_11_ASD_discovery_cases-11714.p1
Paternal
Simplex
Segregated
GALNT17
levy_11_ASD_discovery_cases-11868.p1
De novo
Simplex
Segregated
MTATP6P21,MTCO3P41
liu_15_ASD/DD_discovery_cases-case1
Real-time qPCR
De novo
Simplex
Segregated
RNU6-832P,MTCO2P25,MTCO1P25,RNU6-229P,AUTS2
monteiro_19_ASD_discovery_cases_case9
Paternal
AUTS2
morrow_08_ASD_discovery_cases-case3101
Maternal
NA
NA
CALN1
nagamani_12_ASD/DD/ID_discovery_cases-patient1
FISH or exon-targeted aCGH
De novo
Unknown
Possibly segregated
AUTS2
nagamani_12_ASD/DD/ID_discovery_cases-patient2
FISH or exon-targeted aCGH
Unknown (not maternal)
Unknown
Unknown
AUTS2
nagamani_12_ASD/DD/ID_discovery_cases-patient3
FISH or exon-targeted aCGH
Maternal
Multiplex
Segregated
AUTS2
nagamani_12_ASD/DD/ID_discovery_cases-patient4
FISH or exon-targeted aCGH
Maternal
Multiplex
Segregated
AUTS2
pinto_10_ASD_discovery_cases-case5015_4
Agilent1M
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5061_3
Agilent1M
maternal
Multiplex
NA
pinto_10_ASD_discovery_cases-case5297_3
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5447_3
Agilent1M
maternal
NA
NA
prasad_12_ASD_discovery_cases-case144127
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case58472L
Unknown
Unknown
Unknown
STAG3L4
prasad_12_ASD_discovery_cases-case65344
Unknown
Unknown
Unknown
AUTS2
prasad_12_ASD_discovery_cases-case66673
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case69183
Unknown
Unknown
Unknown
MIR3914-1,MIR3914-2,WBSCR17
prasad_12_ASD_discovery_cases-case80186
Unknown
Unknown
Unknown
CALN1
sanchez-jimeno_21_ADHD/DD_discovery_cases-caseRM-1003
De novo
CT66,RNA5SP231,RNU6-832P,RNU6-229P,MTCO1P25,MTCO2P25,AUTS2
sanchez-jimeno_21_ADHD/DD_discovery_cases-caseRM-299
De novo
AUTS2
sanders_11_ASD_discovery_cases-11025.p1
Paternal
Simplex (trio)
NA
STAG3L4
sanders_11_ASD_discovery_cases-11060.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
CALN1
sanders_11_ASD_discovery_cases-11353.p1
Paternal
Simplex (quad-proband matched)
Segregated
CALN1
sanders_11_ASD_discovery_cases-11516.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11556.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CALN1
sanders_11_ASD_discovery_cases-11714.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GALNT17
sanders_11_ASD_discovery_cases-11841.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12211.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12360.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12434.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AUTS2
sanders_11_ASD_discovery_cases-12444.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CALN1
sanders_11_ASD_discovery_cases-12498.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AUTS2
sanders_11_ASD_discovery_cases-12606.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12831.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12925.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CALN1
shen_10_ASD_discovery_cases-ASD-09-043
Unknown
NA
NA
AUTS2
tropeano_13_DD/ASD_discovery_cases-case29
Unknown
RNU6-832P,MTCO2P25,MTCO1P25,RNU6-229P,MIR3914-1,MIR3914-2,RN7SKP75,AUTS2,GALNT17
yuen_17_ASD_discovery_cases-case1-0485-003
Affymetrix 6.0
De novo
Simplex
Segregated
AUTS2
yuen_17_ASD_discovery_cases-case1-0736-003
Affymetrix CytoScan HD
Maternal
Simplex
Unknown
AUTS2
yuen_17_ASD_discovery_cases-caseAU3779301
Not available
Maternal
Multiplex
Possibly segregated
AUTS2
yuen_17_ASD_discovery_cases-caseAU3779302
Not available
Maternal
Multiplex
Possibly segregated
AUTS2
yuen_17_ASD_discovery_cases-caseAU3779304
Not available
Maternal
Multiplex
Possibly segregated
AUTS2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0736-003
RT-qPCR or WGS
Maternal
AUTS2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-1042-003
RT-qPCR or WGS
De novo
AUTS2
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
beunders_13_DD/ID/ASD_discovery_controls-control1
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_controls-control2
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_controls-control3
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_controls-control4
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_controls-control5
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_controls-control6
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_controls-control7
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_controls-control8
Unknown
AUTS2
beunders_13_DD/ID/ASD_discovery_controls-control9
Unknown
AUTS2
brandler_18_ASD_discovery_controls-controlSSC04987
PCR or SNP data validation
Paternal
AUTS2
engchuan_15_ASD_discovery_controls-control110036014918_
Unknown
AUTS2
engchuan_15_ASD_discovery_controls-control110036020626_
Unknown
engchuan_15_ASD_discovery_controls-controlB101412_1007873983
Unknown
CALN1
engchuan_15_ASD_discovery_controls-controlB178414_0057061570
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_controls-controlB295219_1007872186
Unknown
engchuan_15_ASD_discovery_controls-controlB471933_1007872688
Unknown
AUTS2
engchuan_15_ASD_discovery_controls-controlB556806_1007854703
Unknown
AUTS2
engchuan_15_ASD_discovery_controls-controlB703094_1007854334
Unknown
engchuan_15_ASD_discovery_controls-controlB726886_0067942660
Unknown
GALNT17
engchuan_15_ASD_discovery_controls-controlB846568_1007853715
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_controls-controlB847353_1007844832
Unknown
AUTS2
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
Unknown
engchuan_15_ASD_discovery_controls-controlB954474_1007874921
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_controls-controlB979317_1007842460
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_controls-controlHABC_900196_900196
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_controls-controlHABC_900249_900249
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_controls-controlHABC_900299_900299
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_controls-controlHABC_901060_901060
Unknown
MIR4650-2,RN7SL377P,SBDSP1,RN7SL625P,TYW1B
engchuan_15_ASD_discovery_controls-controlHABC_901161_901161
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901254_901254
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902572_902572
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902782_902782
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
Unknown
kanduri_15_ASD_discovery_controls-control_split1894
Unknown
CALN1 (intronic)
kanduri_15_ASD_discovery_controls-control_split918
Unknown
Intergenic CNV: nearest genes, AUTS2(dist=117399),WBSCR17(dist=25257)
krumm_15_ASD_discovery_controls-control14206.s1
Omni2.5-4v1
Maternal
AUTS2,GALNT17
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0188
qRT-PCR
Unknown
AUTS2
levy_11_ASD_discovery_controls-11439.s1
Paternal
Simplex
NA
AUTS2
nord_11_ASD_discovery_controls-04C27344
CALN1
nord_11_ASD_discovery_controls-04C28409
AUTS2
sanders_11_ASD_discovery_controls-11198.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11305.s1
Maternal
Simplex (quad)
NA
MTND4P3,RNA5SP231
sanders_11_ASD_discovery_controls-11439.s1
Paternal
Simplex (quad)
NA
AUTS2
sanders_11_ASD_discovery_controls-11673.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11868.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11897.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11966.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12211.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12373.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12383.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12434.s1
Maternal
Simplex (quad)
NA
AUTS2
sanders_11_ASD_discovery_controls-12498.s1
Paternal
Simplex (quad)
NA
AUTS2
sanders_11_ASD_discovery_controls-13222.s1
Paternal
Simplex (quad)
NA
CALN1
No Animal Model Data Available