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Xp22.31CNV Type: Deletion-Duplication


Largest CNV size: 1648063 bp

Statistics Box:
Number of Reports: 45


Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion-Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Deletion-Duplication
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.
Duplication
A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presenc...
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion-Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion
NA
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
NA
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Duplication
NA
Duplication
NA
Deletion
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 barber_12_ASD_discovery_cases
 Two patients with cytogenetically visible duplications of 16p12.2-p11.2 (male patient is in DECIPHER database as patient 2131)
 2
 Female case diagnosed with autism (using ADI-R). Male case not regarded as having autism, but displays autistic features. Both cases with intellectual disability.
 Range, 18-45 yrs.
 50% Male
 1520000
 0
 1
 1
 bartnik_12_EP_discovery_cases
 102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
 102
 Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
 NA
 NA
 358000
 0
 1
 1
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 626000
 0
 2
 2
 chehbani_22_ASD_discovery_cases
  NA NA
 Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
 98
 Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
 Range, 3-18 yrs.
 84.69% Male
 363524
 0
 1
 1
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 1691000
 2
 2
 4
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 1591560
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 1560000
 1
 3
 4
 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
 1638228
 6
 21
 27
 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
 
 
 683850
 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
 
 
 343778
 0
 1
 1
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 1
 0
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 49461
 1
 0
 1
 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
 
 
 1566560
 2
 1
 3
 goitia_15_ASD_discovery_cases
 Only child of nonconsanguineous parents diagnosed with autism
 1
 Case diagnosed by pediatrician with autism spectrum disorder (diagnostic tools N/A) at age of 29 months.
 3 yrs. 9 mos.
 Male
 1680493
 0
 1
 1
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 1633301
 1
 0
 1
 handrigan_13_ASD/DD/ID_discovery_cases
 Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
 35
 22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
 Range, 0 mos.-20 yrs.
 48.57% Male
 114862
 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
 1690000
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 165017
 2
 0
 2
 jiao_19_EP/DD/ID_discovery_cases
 Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
 220
 Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
 Range, 1 mo.- 14 yrs.
 60.45% Male
 1630000
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1758837
 13
 24
 37
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1982639
 2
 7
 9
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 1645269
 3
 0
 3
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 1642000
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 1700000
 2
 4
 6
 monteiro_19_ASD_discovery_cases
  NA NA
 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
 1109000
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 651000
 0
 1
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 1612538
 1
 0
 1
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 1700000
 1
 2
 3
 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
 
 
 1640000
 0
 2
 2
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 1635453
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 393222
 1
 3
 4
 quintela_15_ASD/ADHD/ID_discovery_cases
 First child of non-consanguineous parents of European descent with an unremarkable family history
 1
 Case originally diagnosed with autistic disorder according to DSM-IV-TR at age of 3 years 9 months (CARS score of 39, placing case in category of severe autism), followed by comprehensive diagnostic assessment at age of 8 years using ADI-R; additional evaluation suggested comorbid diagnosis of ADHD and intellectual disability.
 8 yrs.
 Male
 1690000
 0
 1
 1
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 347788
 1
 0
 1
 rajcan-separovic_07_ASD_discovery_cases
 ASD probands in Canadian Institute for Health Research (CIHR)-funded study to identify CNVs in individuals with idiopathic ID and/or ASD in collaboration with HEIDI & ASD-CARC
 2
 1 case diagnosed with ASD (DSM-IV criteria, confirmed by ADOS-G), 1 with intellectual disability & developmental delay (did not meet DSM-IV or ADOS-G criteria for an ASD). Both cases have ADHD or attention deficits.
 Range, 6-8 yrs.
 50% Male
 1200000
 1
 0
 1
 reinthaler_14_EP_discovery_cases
 Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
 281
 Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
 N/A
 58.72% Male
 1665000
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 1624409
 1
 4
 5
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 981163
 0
 6
 6
 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
 1648063
 7
 12
 19
 schaefer_10_ASD_discovery_cases
 Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
 68
 Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
 
 
 NA
 1
 2
 3
 schuch_19_ASD_discovery_cases
  NA NA
 Childen of European descent diagnosed with idiopathic ASD
 40
 Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
 Mean, 7.83 2.95 yrs.
 90.00% Male
 481000
 0
 2
 2
 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)
 
 
 1628000
 1
 1
 2
 silva_14_ASD_discovery_cases
 First of three children of non-consanguineous healthy parents presented for evaluation of neurodevelopmental delay
 1
 Case met DSM-IV criteria for diagnosis of ASD at age of 2.5 years; symptoms considered mild-moderate according to Childhood Autism Rating Scale (CARS)
 8 yrs.
 Male
 210000
 0
 1
 1
 tropeano_16_ASD/NDD_replication_cases
 Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
 18857
 Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
 N/A
 BBGRE cohort, 67% Male; Hospit
 667833
 1
 0
 1
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 1650000
 0
 2
 2
 wang_10_ASD_discovery_cases
 ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
 103
 ASD (according to DSM-IV criteria)
 Mean, 21.5 10.3
 78.6% Male
 1644000
 0
 0
 0
 willemsen_12_DD/ID_discovery_cases
 Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
 4407
 Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
 2/3 of cases: age range of 1-18 yrs.
 54.5% Male
 1600000
 12
 6
 18
 woodbury-smith_20_ASD_discovery_cases
 ASD cases from nine Canadian extended pedigrees (defined as having at least three ASD cases spread across at least two nuclear families)
 39
 Cases diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria)
 Mean age, 123.84 months (SD 101.70)
 87.18% Male (6.8:1 M:F ratio)
 1635927
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 1655950
 1
 0
 1
 chen_17_ASD_discovery_controls2
 Male control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan screened for CNVs at the X chromosome
 525
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 
 100% Male
 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
 1658112
 15
 54
 69
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1566560
 NA
 NA
 NA
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 1633301
 0
 0
 0
 handrigan_13_ASD/DD/ID_discovery_controls
 Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
 11019
 Control
 NA
 NA
 NA
 NA
 NA
 NA
 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
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 1982639
 1
 6
 7
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 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.
 
 109171
 0
 1
 1
 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)
 393222
 0
 0
 0
 reinthaler_14_EP_discovery_controls
 Unscreened population controls
 1512
 Control
 N/A
 49.93% Male
 1665000
 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.
 
 1634136
 8
 18
 26
 wang_10_ASD_discovery_controls
 Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
 203
 Controls
 Mean, 32.5 8.06
 71.9% Male
 1644000
 0
 1
 1

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 barber_12_ASD_discovery_cases
  Female case Caucasian; male case NA
 aCGH
  Agilent 4X44K
 
 Agilent Analytics
 None
 bartnik_12_EP_discovery_cases
  Poland
 aCGH
  Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
 
 BCM web-based software, IMiD-web2py
 None
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 chehbani_22_ASD_discovery_cases
  Tunisia
 aCGH
  Agilent SurePrint G3
 ADM-2
 Agilent Cytogenomic v.4.0.3.12.
 None
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 goitia_15_ASD_discovery_cases
  Hispanic
 Array SNP
  REVEAL whole genome chromosome SNP microarray
 
 
 None
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 handrigan_13_ASD/DD/ID_discovery_cases
  NA
 aCGH, solid phase hybridization
  Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
 
 
 None
 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
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 FISH
 jiao_19_EP/DD/ID_discovery_cases
  China
 WGS
  Low-coverage whole genome sequencing
 
 Illumina BclToFastq
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 qPCR
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 monteiro_19_ASD_discovery_cases
  Portuguese
 aCGH
  Agilent SurePrint G3 4x180K
 
 Agilent Cytogenomics
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 FISH
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 quintela_15_ASD/ADHD/ID_discovery_cases
  European
 Array SNP
  Affymetrix Cytoscan HD
 
 Affymetrix ChAS v.1.2.2
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 rajcan-separovic_07_ASD_discovery_cases
  1 Caucasian, 1 mixed Chinese-Caucasian
 aCGH
  BACs aCGH (1-Mb resolution BAC array)
 
 Spectralware 2
 FISH
 reinthaler_14_EP_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
 PennCNV
 Illumina Genome Viewer
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 schaefer_10_ASD_discovery_cases
 
 aCGH
  Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
 
 GenePix Pro 6.0, SpectralWare CGH analysis software
 FISH
 schuch_19_ASD_discovery_cases
  European
 aCGH
  Agilent 8x60K
 ADM-2
 Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
 None
 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
 silva_14_ASD_discovery_cases
  European
 aCGH
  BACs aCGH (SignatureChip Whole Genome)
 
 
 None
 tropeano_16_ASD/NDD_replication_cases
  United Kingdom and Canada
 aCGH
  Agilent 60K, OGT Cytosure 4x180K
 ADM-2
 Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
 None
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 wang_10_ASD_discovery_cases
  Croatian
 Solid phase hybridization
  Illumina HumanHap550 BeadChip
 PennCNV
 BeadStudio
 None
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 None
 woodbury-smith_20_ASD_discovery_cases
  Northern European
 Array SNP, solid phase hybridization
  Affymetrix 6.0, Affymetrix CytoScan HD, Illumina HumanCoreExome, Illumina Omni 2.5M, Illumina Omni 1M
 ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite, PennCNV, QuantiSNP
 
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  chen_17_ASD_discovery_controls2
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  handrigan_13_ASD/DD/ID_discovery_controls
  NA
  N/A
  N/A
 
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  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
 
  reinthaler_14_EP_discovery_controls
  German
  Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
  PennCNV
  Illumina Genome Viewer
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  wang_10_ASD_discovery_controls
  Croatian
  Solid phase hybridization
  Illumina HumanHap550 BeadChip
  PennCNV
  BeadStudio
  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
  barber_12_ASD_discovery_cases-case2
 45 yrs.
 M
 Intellectual disability and autistic features
 DECIPHER patient 2131. Birth/neonatal history: full-term normal delivery with good birth weight and no very early health concerns. Developmental milestones: a little late to walk; markedly delayed speech. Language and communication evaluation: can now read well; poor writing. Behavioral/psychiatric evaluation: generally good-natured; some obsessive behavior; not regarded as having had autism. Other medical concerns and comorbidities: generally healthy as a child but did have one episode of unexplained hypercalcemia; as an dult has been well other than recurrent rectal prolapse. Dysmorphic features: wide mouth, large furrowed tongue, broad alveolar margins, broad hands with generalized brachydactyly, untapered digits; large lipoma on back, freckling on palms and soles. Growth parameters: short stature, average build; height of 158 cm (0.4th %ile), OFC 59 cm (98th %ile). Family history: paternal chromosomes normal; no other information.
 Intellectual disability
 6539362
 8064020
  1524659
 GRCh38
 Duplication
 No
  bartnik_12_EP_discovery_cases-case20
 NA
 F
 Epilepsy
 Age of onset of epilepsy: 14 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME). Parental phenotype: normal.
 Normal IQ
 7873079
 8231500
  358422
 GRCh38
 Duplication
 No
  battaglia_13_DD/ID/ASD_discovery_cases-case45
 5 yrs.
 M
 Autism and developmental delay/intellectual disability
 Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.
 Moderate-severe DD/ID
 6633114
 7259403
  626290
 GRCh38
 Duplication
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case75
 4 yrs. 4 mos.
 F
 Borderline DD/ID
 Autism: no. Epilepsy: no. Dysmorphic features: yes. Karyotype: Robertsonian 13;14 translocation at amniocentesis.
 Borderline DD/ID
 6118439
 6537478
  419040
 GRCh38
 Duplication
 Yes
  chehbani_22_ASD_discovery_cases-case57
  NA NA
 NA
 F
 ASD, intellectual disability, and epilepsy
 Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with phenylketonuria and epilepsy.
 Intellectual disability.
 6163757
 6527280
  363524
 GRCh38
 Duplication
 No
  chen_17_ASD_discovery_cases-caseU-1344
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 10 (past score 19); Qualitative abnormalities in verbal and nonverbal communication, current score 7 (past score 13); Qualitative abnormalities in nonverbal communication, current score 3 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 8); Abnormality of development evident at or before 36 months, past score 4. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 104; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 25. Epilepsy: no history of epilepsy.
 Performance IQ 78, Verbal IQ 91, Full-scale IQ 83
 6022606
 6748429
  725824
 GRCh38
 Duplication
 Yes
  chen_17_ASD_discovery_cases-caseU-1626
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 13 (past score 25); Qualitative abnormalities in verbal and nonverbal communication, current score 7 (past score 16); Qualitative abnormalities in nonverbal communication, current score 2 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 7); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 87; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 17. Epilepsy: history of febrile convulsion but ceased medication after episodes.
 Performance IQ 120, Verbal IQ 111, Full-scale IQ 116
 6741176
 8006974
  1265799
 GRCh38
 Deletion
 Yes
  chen_17_ASD_discovery_cases-caseU-2200
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 5 (past score 15); Qualitative abnormalities in verbal and nonverbal communication, current score 3 (past score 21); Qualitative abnormalities in nonverbal communication, current score 1 (past score 11); Restricted, repetitive, and stereotyped patterns of behaviour, current score 12 (past score 12); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 108; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 47. Epilepsy: no history of epilepsy.
 Performance IQ 116, Verbal IQ 84, Full-scale IQ 97
 6549861
 8167604
  1617744
 GRCh38
 Deletion
 Yes
  chen_17_ASD_discovery_cases-caseU-919
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 19 (past score 21); Qualitative abnormalities in verbal and nonverbal communication, current score 17 (past score 18); Qualitative abnormalities in nonverbal communication, current score 7 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 8 (past score 8); Abnormality of development evident at or before 36 months, past score 4. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 53; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 30. Epilepsy: no history of epilepsy.
 Performance IQ 105, Verbal IQ 98, Full-scale IQ 101
 6537110
 8177680
  1640571
 GRCh38
 Duplication
 Yes
  davis_09_ASD_discovery_cases-AU026803
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 6249476
 7841036
  1591560
 Unknown
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299789
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 6634671
 8147112
  1512442
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300165
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 6634671
 8147112
  1512442
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300211
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 6634671
 8147112
  1512442
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300318
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 6787227
 7115275
  328049
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13116_1333
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6828187
 6905881
  77695
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13160_1773
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 8285230
 8426212
  140983
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14080_1360
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6828187
 6905881
  77695
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14111_2000
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 8280548
 8426212
  145665
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14203_3290
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6528784
 8167012
  1638229
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14378_4910
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 8730244
 9233883
  503640
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14412_5210
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6528784
 8167012
  1638229
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14415_5240
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6528784
 8167012
  1638229
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case17023_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6528784
 8167012
  1638229
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case18085_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7089918
 7351279
  261362
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case18118_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6828187
 6905881
  77695
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case21021_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6528784
 8167012
  1638229
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21022_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 8641364
 8699403
  58040
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3087_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7483163
 7648572
  165410
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3536_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6546218
 6922831
  376614
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4022_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6540125
 8167012
  1626888
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4147_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6546218
 6914279
  368062
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4240_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6531560
 8167012
  1635453
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4276_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 8630629
 8744580
  113952
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4530_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 8280548
 8426212
  145665
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5008_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 8285230
 8426212
  140983
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5015_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6528784
 8167012
  1638229
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5296_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6822283
 6905881
  83599
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6177_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6418536
 6520082
  101547
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6177_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7578127
 7839167
  261041
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6352_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7843775
 8167012
  323238
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6352_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6528784
 7030388
  501605
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU0994301
 
 
 Autism
 
 
 7411204
 8095053
  683850
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU0943301
 
 
 Autism
 
 
 6335520
 6679297
  343778
 Unknown
 Duplication
 No
  gannon_11_ASD/DD_discovery_cases-patientW
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case685-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 8321151
 8370612
  49462
 GRCh38
 Deletion
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case23391
 8 yrs. 8 mos.
 M
 Developmental delay
 ADHD, frustation. Normal tone. Dysmorphic features: brachycephaly, mild ptosis, cleft in columella, downturned mouth, dental crowding, high palate, low posterior hairline, short neck, hypoplastic pinnae, Darwin's tubercles. Congenital anomalies: iris colobomas. Growth parameters: weight >97th %ile, height 50th %ile, OFC 50th %ile. Family history: mother and father both have learning disability. Patient previously reported in Rosenfeld et al., 2010.
 Mild global developmental delays, low-average cognition
 6544906
 8111466
  1566561
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case26112
 9 yrs. 3 mos.
 F
 Intellectual disability
 Normal tone. Mild hearing loss. Dysmorphic features: short philtrum, full lips. Growth parameters: weight 75th %ile, height 75th %ile, OFC -1.1 SD. Family history: 2 half-siblings (not tested) with ADHD and behavioral problems.
 Mild ID (IQ 56)
 6544906
 8111466
  1566561
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case27397
 8 mos.
 F
 Microcephaly
 No developmental delay as of yet. Normal tone, nondysmorphic, family history not specified. Growth parameters: weight 25th-50th %ile, height >97th %ile, OFC -1.3 SD.
 NA
 6539161
 8163909
  1624749
 GRCh38
 Deletion
 Yes
  goitia_15_ASD_discovery_cases-case1
 3 yrs. 9 mos.
 M
 ASD
 Case diagnosed by pediatrician with autism spectrum disorder (diagnostic tools N/A) at age of 29 months. Birth/neonatal history: born at 39 weeks gestation by normal spontaneous vaginal delivery after uncomplicated pregnancy; birth weight of 3528 g (51st-75th %ile), head circumference of 34.3 cm (26th-50th %ile), and length of 52.1 cm (51st-75th %ile); transferred to NICU for progressive respiratory distress and suspected sepsis and was placed on high flow nasal cannula and antibiotic therapy. Developmental milestones: walked at 16 months of age, did not use any words or point for what he wanted at 23 months. Language and communication evaluation: vocabulary of 6 single words at age of 3 years 9 months, attempted to communicate with family through gestures at age of 3 years 9 months. Motor and musculoskeletal evaluation: muscle tone difficult to assess at 29 months of age due to poor cooperation with examiner. Behavioral/psychiatric evaluation: poor eye contact, no typical ritualistic behavior described by parents; placed on Guanfacne for aggressive behavior and outbursrs of screaming and walking out of the house during tantrums. Cardiac evaluation: echocardiogram at birth revealed large patent ductus arteriosus (PDA) with left to right shunt, mild tricuspid regurgitation, and patent foramen ovale with left to right shunt. Dysmorphic features: brachycephaly, hypertelorism, prominent lower face, right ear protruded more than left ear; undescended right testicle; right distal palmar crease extends to 2-3 interspace with small bridged proximal crease, left palmar creases bridged to form one. Family history: only child of nonconsanguineous parents (parental DNA not tested); family history remarkable for maternal grandmother having three miscarriages.
 
 6455151
 8135644
  1680493
 Unknown
 Duplication
 No
  griswold_12_ASD_discovery_cases-case7955
 NA
 NA
 ASD/autism
 NA
 NA
 6533711
 8167012
  1633302
 GRCh38
 Deletion
 Yes
  handrigan_13_ASD/DD/ID_discovery_cases-patient7
 7 days
 M
 Epilepsy
 Neurodevelopmental abnormalities: seizures, no developmental delay. Urological abnormalities: prenatal bilateral hydronephrosis. Other features: ventricular septal defect. Growth parameters: not reported.
 
 7802252
 7917114
  114863
 GRCh38
 Deletion
 No
  hnoonual_17_ASD_discovery_cases-caseTU4
 N/A
 M
 ASD
 Short philtrum, 2 hair whorls, small eyes
 
 6531560
 8172976
  1641417
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case46
 2 yrs.
 F
 Intellectual disability
 Speech delay, microcephaly, autistic features, syndactyly. Karyotype: 1qh-.
 Intellectual disability, cognitive delay
 6063318
 6228335
  165018
 GRCh38
 Deletion
 No
  iourov_12_ASD/ID/EP_discovery_cases-case53
 6 yrs.
 F
 Developmental delay
 Speech delay, microcephaly, cleft palate, facial dysmorphisms.
 Developmental delay
 7175679
 7274687
  99009
 GRCh38
 Deletion
 Yes
  jiao_19_EP/DD/ID_discovery_cases-case71672
 1 yr 11 mos.
 Female
 DD and ID
 Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: motor deterioration, inability to walk. Behavioral/psychiatric evaluation: agitation. Additional medical history: bronchitis.
 Intellectual disability
 6605198
 8180842
  1575645
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000818
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570680
 8082609
  1511930
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000908
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570680
 7776150
  1205471
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000943
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570680
 8082609
  1511930
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001014
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 7917055
 8588267
  671213
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001122
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570680
 8082609
  1511930
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001579
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6536991
 8163769
  1626779
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001895
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8628853
 8737453
  108601
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001951
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6534166
 8181150
  1646985
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002035
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8627004
 8736337
  109334
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002044
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6534166
 8158120
  1623955
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002158
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8168621
 8571550
  402930
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002236
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8627004
 8736337
  109334
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002487
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8469933
 8736337
  266405
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002597
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6548965
 8147112
  1598148
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002739
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6548965
 8147112
  1598148
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003821
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570680
 8129470
  1558791
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003868
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6832908
 6906043
  73136
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003993
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570480
 8129611
  1559132
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004152
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570680
 8129470
  1558791
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004339
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6633114
 7637310
  1004197
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004404
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8452094
 8729487
  277394
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004427
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6534166
 8168680
  1634515
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004523
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6534166
 8148026
  1613861
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004559
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6539362
 8298199
  1758838
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004603
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8629706
 8706315
  76610
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004688
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8695720
 8700128
  4409
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004719
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6539362
 8064079
  1524718
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004769
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 7860124
 8423970
  563847
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004847
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8672728
 8961059
  288332
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004855
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570680
 8129470
  1558791
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004866
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 8627004
 8736337
  109334
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004884
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570680
 8129470
  1558791
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004902
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6539362
 8064079
  1524718
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570480
 8129611
  1559132
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005358
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6570680
 8129470
  1558791
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005428
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 7992018
 8563130
  571113
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005687
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6539362
 6739769
  200408
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11043.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 7050295
 8170349
  1120055
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11435.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6533744
 8466383
  1932640
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11468.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 7050295
 7350261
  299967
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12286.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 7050295
 8127088
  1076794
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12640.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 7050295
 7350261
  299967
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13093.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 7050295
 8466383
  1416089
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13585.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 7843203
 8466383
  623181
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14028.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6533744
 8466383
  1932640
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14247.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6533744
 8466383
  1932640
 GRCh38
 Deletion
 Yes
  kushima_18_SCZ_discovery_cases-caseSCZ0478
 45 yrs.
 M
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 18 years of age (core symptoms include delusions, hallucinations, negative symptoms). Physical comorbidities: ichthyosis. Family history: positive for Alzheimer disease.
 IQ > 70
 6526750
 8172018
  1645269
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0548
 58 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 42 years of age (core symptoms include persecutory delusions, cenesthopathy, auditory hallucinations). Physical comorbidities: polycystic kidney. Family history: negative.
 IQ > 70
 6536927
 8156323
  1619397
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0843
 61 yrs.
 M
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 23 years of age (core symptoms include auditory hallucinations, delusions, thought disorders, negative symptoms, cognitive decline). Brain imaging: diffuse cortical atrophy on brain CT. Physical comorbidities: ichthyosis, inguinal hernia. Family history: negative.
 IQ > 70
 6776477
 7923774
  1147298
 GRCh38
 Deletion
 N/A
  lesca_12_EP_discovery_cases-caseEC73
 NA
 M
 Epilepsy
 Phenotype: s-CSWSS. Seizure Characteristics: Nocturnal. Autistic features: No. ADHD features: Yes. Other features: Cortical and subcortical cerebral atrophy. Ichtyosis..
 Initial cognitive development: Delayed. Cognitive regression: Yes.
 6571836
 8163769
  1591934
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case128
  NA NA
 4 yrs.
 F
 Dysmorphic features and cererbal malformations
 Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations. Dysmorphic features: ears with wide concha. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
 Normal (no intellectual disability or learning disorder)
 7351528
 7838025
  486498
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown226
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 6495859
 8147112
  1651254
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown227
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 6538736
 8151288
  1612553
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown228
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 7666592
 8147112
  480521
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown229
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely pathogenic (VOUS-LP)
 
 6634671
 8147112
  1512442
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown230
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely pathogenic (VOUS-LP)
 
 7666592
 8147112
  480521
 GRCh38
 Duplication
 No
  monteiro_19_ASD_discovery_cases_case21
  NA NA
 N/A
 M
 ASD
 Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: present.
 Normal (no intellectual disability)
 6571836
 8163769
  1591934
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam555Proband9372
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 6976841
 7628064
  651224
 GRCh38
 Duplication
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC59120
 N/A
 M
 Developmental delay and epilepsy
 Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, Seizure Disorder, Multiple Congenital Anomalies; karyotype of der(13)t(1;13) w/~3Mb 1p gain
 Developmental delay
 6548718
 8111256
  1562539
 GRCh38
 Deletion
 Yes
  oikonomakis_16_ASD_discovery_cases-case244
 2 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, facial and body asymmetry, low nuchal hairline
 
 6548965
 8163769
  1614805
 GRCh38
 Duplication
 No
  oikonomakis_16_ASD_discovery_cases-case687
 11 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: speech delay, isolated behavior, dysplasia of right pectoralis major
 
 6570680
 8129470
  1558791
 GRCh38
 Duplication
 No
  oikonomakis_16_ASD_discovery_cases-case69
 2 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: antimogoloid palpebral fissures, high arched palate, hypertelorism, carp mouth
 
 6538965
 8203769
  1664805
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5008_3
 NA
 M
 ASD
 NA
 NA
 8285230
 8426212
  140983
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5015_4
 NA
 M
 ASD
 NA
 NA
 6528784
 8167012
  1638229
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case4240_1
 9 yrs.
 M
 ASD
 Case reported in Griswold et al. 2012a (family 7955). Autism based on medical history, ASD based on ADI-R (missed criteria by one point on repetitive domain); language delay - phrase speech, language disorder; ichthyosis vulgaris, no dysmorphic features. Family history: mother with anxiety disorder, ADHD, bipolar disorder, and migraines; father with thyroid cancer; unaffected sister also carries Xp22.31 deletion.
 ID (Bayley Scale of Infant Development at 33 mo: Mental Developmental Index 21; Vineland Adaptive Behavior Composite score 45 at 9 y)
 6531560
 8167012
  1635453
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case115728L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 8397774
 8790995
  393222
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case138151L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 8397774
 8677839
  280066
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case146442L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 8931695
 8958519
  26825
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case88813
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 6156307
 6407601
  251295
 Unknown
 Duplication
 No
  quintela_15_ASD/ADHD/ID_discovery_cases-case1
 8 yrs.
 M
 ASD, ADHD, and ID
 Diagnosed with autistic disorder according to DSM-IV-TR at age of 3 years 9 months (CARS score of 39, placing case in category of severe autism); comprehensive diagnostic assessment at age of 8 years using ADI-R consistent with diagnosis of autistic disorder [Qualitative Abnormalities in Reciprocal Social Interaction total score of 27 (cutoff of 10); Qualitative Abnormalities in Communication total score of 14 (cutoff of 8); Restricted, Repetitive and Stereotyped Patterns of Behavior total score of 10 (cutoff of 3); Abnormality of Development Evident at or before 36 months total score of 4 (cutoff of 1)]. Birth/neonatal history: uneventful pregnancy without remarkable pregnancy data; delivery by C-section due to dystocia; Apgar score of 8 and 10 at 1 and 5 min, respectively; birth weight of 3080 g; presented scoliosis and mild hypospadias (surgery not required). Developmental milestones: early signs of developmental delay at 4-6 months of age (hypotonia, fine and gross motor deficits); unsupporting sitting before first year, independent walking at 22 months; limited use of gestures at 1 year 6 months; first words at age of 1 year, followed by verbal regression and complete absence of expressive language starting at 3 years. Language and communication evaluation: absent speech, very limited language understanding (alternative/augmentative communication systems introduced in the last year); limited nonverbal communication [unable to point and barely understands meaning of this gesture in others, described as very inexpressive child except frowning when angry, uses some body gesture (mostly stereotypes) to help expression of emotional states]. Behavioral/psychiatric evaluation: administration of Child Behavior Checklist at age of 8 years identified lack of communication and hyperactivity as two main areas of concern; prefers to be with adults; very simple and little structured games; avoids eye contact except with mother; displays clear hyperactive profile (presents special difficulties with foucsed and sustained attentio); tends to show repetitive behaviors and several motor stereotypes; grabs head with hands and rubs or leans himself against a well when very angry or under stress. Brain imaging: normal brain MRI. Auditory evaluation: normal audiometry and auditory evoked potentials. Dysmorphic features: squared craniofacial profile, wide forehead, sparse eyebrows in the outer portion, antimongoloid palpebral slant, long and prominent philtrum, micrognathia, depressed nasal bridge, thin upper lip, large ears, bilateral 5th finger clinodactyly. Growth parameters: weight of 12 kg (3rd-10th %ile), height of 87.5 cm (3rd %ile), and head circumference of 49 cm (25th %ile) at age of 2 years 9 months. Family history: first child of non-consanguineous parents of European descent; unremarkable family history with the exception that mother presented degenerative otosclerosis and required surgery on right ear; father's DNA sample N/A for genetic analysis.
 Cognitive abilities and adaptive behavior compatible with diagnosis of severe intellectual disability (refusal to cooperate and lack of interest in interaction with evaluator precluded full neuropsychological assessment)
 6528538
 8167603
  1639066
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_128
 4 yrs.
 M
 ASD and intellectual disability
 ASD
 Intellectual disability
 6531711
 6879498
  347788
 GRCh38
 Deletion
 No
  rajcan-separovic_07_ASD_discovery_cases-subject1
 8
 F
 ASD
 Diagnosis of ASD based on DSM-IV criteria, confirmed by ADOS-G (module 1) testing. Severely delayed receptive & expressive language. Attention deficit hyperactivity disorder (ADHD). Additional neurological & neurodevelopmental features: normal hearing & EEG testing, spasticity of lower extremities, unsteady gait/balance, pseudobulbar palsy with dysarthria, facial diplegia, drooling. Brain MRI reveals bilateral perisylvian cortical dysplasia. Transient postnatal growth retardation. Feeding problems (poor sucking/swallowing, GI reflux, failure to thrive). Growth parameters: height & weight 75-90 %ile; OFC <<2 %ile. Mild visual impairment due to optic nerve hypoplasia & perisylvian migration disorder. Dysmorphic features & congenital anomalies include: microcephaly, brachycephaly, bitemporal narrowing, flattened occiput, facial assymetry, prominent nasal bridge and tip, widened inner canthal distance (ICD), telecanthus, strabismus, short palpebral fissures, ptosis, smooth philtrum, high palate, bruxism, everted lowed lip, bilateral camptodactyly of digits 3-5, metatarsus abductus, non-functional left multicystic kidney. Paternal medical history of X-linked ichthyosis due to steriod sulphatase deficiency.
 Moderately severe global developmental delay, moderate intellectual disability
 6585864
 7877126
  1291263
 GRCh38
 Deletion
 Yes
  reinthaler_14_EP_discovery_cases-caseAVRE09
 N/A
 M
 Epilepsy
 Epilepsy phenotype: rolandic epilepsy.
 
 6551970
 8167012
  1615043
 GRCh38
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case10659
 NA
 NA
 ASD
 NA
 NA
 6957714
 7386713
  428999
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case11977
 NA
 NA
 ASD
 NA
 NA
 6467402
 8091811
  1624409
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case16490
 NA
 NA
 ASD
 NA
 NA
 6207321
 6508993
  301672
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case20838
 NA
 NA
 ASD
 NA
 NA
 6472947
 6930828
  457881
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case26397
 NA
 NA
 ASD
 NA
 NA
 6544906
 8111466
  1566561
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1029-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 7824572
 8167012
  342441
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1029-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 6746259
 7619235
  872977
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1630-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
 Developmental delay: unknown. Intellectual disability: unknown.
 8614517
 8714909
  100393
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-222
 N/A
 N/A
 CBLH-PMG
 Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
 
 7599284
 8030253
  430970
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-142
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 7841042
 8012889
  171848
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-142
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 6646902
 7628064
  981163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11043.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 106
 6538899
 8184147
  1645249
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11087.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
 7065420
 7819279
  753860
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11122.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
 8630629
 8693159
  62531
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11235.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
 7077376
 7178968
  101593
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 7680936
 7777245
  96310
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11435.p1
 17.7
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
 6531560
 8167012
  1635453
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11446.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
 6531560
 6922831
  391272
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11468.p1
 10.7
 M
 Aspergers
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
 6834840
 7717690
  882851
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11555.p1
 9.1
 F
 Aspergers
 NA
 Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
 6828187
 6925879
  97693
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11556.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
 6828187
 6932469
  104283
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11911.p1
 9.9
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
 6828187
 6905881
  77695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12073.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
 8285230
 8426212
  140983
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12286.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 6528784
 8176847
  1648064
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12435.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
 6533711
 6730426
  196716
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 6546218
 6736657
  190440
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12640.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 118; verbal IQ, 99
 6661894
 7789533
  1127640
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12908.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 81; verbal IQ, 70
 8492787
 8517017
  24231
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13089.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
 6139708
 6750140
  610433
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13093.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 167; non-verbal IQ, 161; verbal IQ, 153
 6528784
 8176847
  1648064
 GRCh38
 Duplication
 No
  schaefer_10_ASD_discovery_cases-case11
 NA
 F
 Autism
 Simple (non-syndromic) autism. Palmar-plantar hyperkeratosis, eating disorder. Father with same duplication also diagnosed with autism and planar-plantar hyperkeratosis.
 Developmental delays.
 NA
 NA
  NA
 Unknown
 Duplication
 Yes
  schaefer_10_ASD_discovery_cases-case12
 NA
 M
 Autism
 Simple (non-syndromic) autism. No dysmorphisms.
 Developmental delays.
 NA
 NA
  NA
 Unknown
 Deletion
 Yes
  schaefer_10_ASD_discovery_cases-case13
 NA
 NA
 Autism
 Simple (non-syndromic) autism. Extreme anger disorder. No dysmorphisms.
 
 NA
 NA
  NA
 Unknown
 Duplication
 Yes
  schuch_19_ASD_discovery_cases-case12
  NA NA
 N/A
 M
 ASD, developmental delay, and epilepsy
 PDD-NOS, developmental delay, epilepsy, echolalia, mood instability, repetitive movements.
 
 7978436
 8147112
  168677
 GRCh38
 Duplication
 No
  schuch_19_ASD_discovery_cases-case12
  NA NA
 N/A
 M
 ASD, developmental delay, and epilepsy
 PDD-NOS, developmental delay, epilepsy, echolalia, mood instability, repetitive movements.
 
 6634671
 7115275
  480605
 GRCh38
 Duplication
 No
  shen_10_ASD_discovery_cases-ASD-09-077
 NA
 M
 ASD
 NA
 NA
 6535272
 8163769
  1628498
 GRCh38
 Deletion
 No
  shen_10_ASD_discovery_cases-ASD-09-078
 NA
 F
 PDD-NOS
 NA
 NA
 6564051
 8188133
  1624083
 GRCh38
 Duplication
 No
  silva_14_ASD_discovery_cases-case1
 8 yrs.
 M
 ASD
 Case met DSM-IV criteria for diagnosis of ASD at age of 2.5 years; symptoms considered mild-moderate according to Childhood Autism Rating Scale (CARS). Birth/neonatal history: uneventful 39-week pregnancy, with no exposures to known teratogens; born by normal spontaneous delivery; birth weight of 3156 kg (10th-25th %ile), length of 51 cm (50th-75th %ile), and head circumference of 34 cm (10th-25th %ile); Apgar scores 9 and 10 at 1 and 5 min; born with spina bifida occulta. Developmental milestones: early developmental concerns due to lack of eye contact at 1 year of age; delayed language development, first words at age of 3 years; able to sit up around 5 months, to crawl at 11 months,and to walk by age of 1 year 3 months. Behavioral/psychiatric evaluation: good humor, tendency for isolation, few friends, stereotypies, anxiety, hyperactivity, moderate difficulty in changing routines, excessive focus on specific objects and games; flair for music; high sensitivity to noises. Brain imaging: normal results on brain MRI. Growth parameters: weight of 21 kg (3rd-10th %ile), height of 1.30 m (50th-75th %ile), and head circumference of 53 cm (50th-90th %ile) at age of 8 years. Family history: first of three children of non-consanguineous healthy parents of European origin (both of whom were 30 years old at time of case's birth); two younger brothers developing normally; father not available for DNA testing.
 Currently attending a regular school with good academic performance; displays especially good memory.
 N/A
 N/A
  210000
 GRCh37
 Duplication
 No
  tropeano_16_ASD/NDD_replication_cases-case77
 < 3 years
 F
 Motor and speech delay
 Motor delay, speech and language delay, hearing impairment, Prominent forehead, Low set ears and short ear lobes, Heart disease (e.g. atrial septal defect, ventricular septal defect). Family history: father with diabetes; grandmother (paternal) had deafness; Maternal family history consistent with x-linked ichthyosis.
 
 6969477
 7637310
  667834
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case64
 4 yrs.
 M
 ADHD
 Hypertelorism, upslanting palberbal fissures, carp mouth, broad forehead, strabismus, ADHD
 
 6548965
 8196762
  1647798
 GRCh38
 Duplication
 No
  tzetis_12_DD/ID_discovery_cases-case65
 5 yrs.
 M
 ADHD
 Microcephaly, hypertelorism, ADHD
 
 6548965
 8163769
  1614805
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case17
 
 M
 Other
 X-linked ichtyosis, concentration and emotional problems
 
 6581959
 7731959
  1150001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case18
 
 M
 Intellectual disability
 Multiple congenital anomalies (MCA)
 Intellectual disability
 7111959
 7301959
  190001
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case19
 
 M
 Intellectual disability
 X-linked ichthyosis, spastic quadriplegia
 Intellectual disability
 6901959
 7911959
  1010001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case20
 
 M
 Intellectual disability and epilepsy
 X-linked ichthysosis, skeletal dysplasia, epilepsy
 Intellectual disability
 6581959
 8191959
  1610001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case21
 
 M
 Autism and developmental delay
 X-linked ichtyosis
 Developmental delay
 6481959
 8121959
  1640001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case38
 
 F
 Intellectual disability
 Microcephaly, growth retardation, neuronal migration disorder
 Severe ID
 6101959
 6751959
  650001
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case39
 
 F
 Intellectual disability
 Costeff syndrome (genetically confirmed)
 Intellectual disability
 6571959
 8171959
  1600001
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case40
 
 F
 Developmental delay
 Severe speech delay
 
 6571959
 8171959
  1600001
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case41
 
 F
 Developmental delay
 Developmental delay
 Developmental delay
 6571959
 8171959
  1600001
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case42
 
 F
 Intellectual disability
 Progressive cerebellar ataxia, hypotonia
 Intellectual disability
 7121959
 8171959
  1050001
 GRCh38
 Duplication
 No
  willemsen_12_DD/ID_discovery_cases-case43
 
 F
 Intellectual disability and epilepsy
 Epilepsy, alopecia, hearing loss
 Intellectual disability
 6571959
 8171959
  1600001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case44
 
 F
 Intellectual disability
 Severe ID
 Severe ID
 6571959
 8171959
  1600001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case45
 
 F
 Other
 Cerebellar ataxia (rombencephalosynapsis), attention and concentration deficits
 
 6571959
 8171959
  1600001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case46
 
 F
 Intellectual disability
 Mitochondrial disease
 Intellectual disability
 6571959
 8171959
  1600001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case47
 
 F
 Intellectual disability
 Intellectual disability
 Intellectual disability
 6571959
 8171959
  1600001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case48
 
 F
 Other
 Abnormal hair, scoliosis
 
 6571959
 8171959
  1600001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case49
 
 F
 Intellectual disability
 Multiple congenital anomalies (MCA)
 Intellectual disability
 6571959
 8171959
  1600001
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case50
 
 F
 Intellectual disability
 Intellectual disability
 Intellectual disability
 6571959
 8171959
  1600001
 GRCh38
 Deletion
 No
  woodbury-smith_20_ASD_discovery_cases-case3-0393-000
 N/A
 F
 ASD
 Case diagnosed with autism spectrum disorder (diagnosis confirmed by ADI-R and ADOS-Revised and as meeting DSM-IV criteria)
 
 6537122
 8173048
  1635927
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_controls-controlSSC05986
  N/A
  F
  Control
  Control from SSC cohort
 
  6532810
  8138759
  1605950
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-control110036007961_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8172976
  8796279
  623304
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036019776_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6828187
  6905881
  77695
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036020733_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6528784
  8167012
  1638229
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036021301_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6905243
  7497580
  592338
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036024487_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8280548
  8426212
  145665
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB177474_0057061567
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6528784
  8176847
  1648064
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB229893_1007841234
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6828187
  6905881
  77695
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB237493_1007841091
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6551970
  6675559
  123590
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB237493_1007841091
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7599284
  8167012
  567729
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB247542_1007853676
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6531560
  6736657
  205098
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB248665_1007854152
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6828187
  6905881
  77695
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB302401_1007853745
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6551970
  6862849
  310880
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB413550_1007872281
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6538899
  8167012
  1628114
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB416446_0067942614
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8176847
  8280548
  103702
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB416446_0067942614
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8429860
  8464674
  34815
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB427661_1007840422
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6551970
  6681706
  129737
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB427661_1007840422
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7956500
  8167012
  210513
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB444871_1007853318
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6528784
  8167012
  1638229
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB476727_1007873494
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7405889
  7567954
  162066
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB478115_1007842238
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7405889
  7567954
  162066
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB478535_1007873318
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8280548
  8426212
  145665
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB522577_1007840898
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8259805
  8429860
  170056
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB524961_1007872292
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6538899
  8167012
  1628114
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB538534_1007854364
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6828187
  6905881
  77695
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB582347_1007848500
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8630629
  8744580
  113952
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB608968_1007875795
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8630629
  8717106
  86478
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB611425_1007873622
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6533711
  6736657
  202947
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB614568_1007871710
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6533711
  8167012
  1633302
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB667434_1007854745
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8280548
  8464674
  184127
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB667434_1007854745
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6482314
  6528784
  46471
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB685540_1007852919
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6624741
  6736657
  111917
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB685540_1007852919
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8071805
  8116562
  44758
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB703094_1007854334
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6828187
  6914279
  86093
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB704695_1007844443
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7851486
  8466305
  614820
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB706773_1007843551
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6528784
  6675559
  146776
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB706773_1007843551
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7594227
  8167012
  572786
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB736147_1007871696
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8269409
  8429860
  160452
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB748118_1007874904
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8630629
  8717106
  86478
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB751447_1007846052
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7405889
  7567954
  162066
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB781973_1007874689
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8280548
  8429860
  149313
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB818952_1007874830
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7980263
  8167012
  186750
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB818952_1007874830
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6538899
  6637075
  98177
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB846568_1007853715
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6538899
  8197011
  1658113
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB890930_1007874394
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8259805
  8449487
  189683
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB892844_1007875170
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6533711
  8176847
  1643137
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB923510_1007875812
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6358535
  6760045
  401511
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB972203_1007842429
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8429860
  8484441
  54582
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB985683_1007875312
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7851486
  8469225
  617740
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB994805_1007853994
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7382377
  7497580
  115204
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900135_900135
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6524384
  6681706
  157323
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900135_900135
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7599284
  8167012
  567729
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900324_900324
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7405889
  7573942
  168054
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900353_900353
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6536356
  6727556
  191201
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900403_900403
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6533711
  8167012
  1633302
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900441_900441
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6546218
  6922831
  376614
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900690_900690
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7405889
  7573942
  168054
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6533711
  6981422
  447712
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900715_900715
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7211463
  8043708
  832246
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900902_900902
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8285230
  8453634
  168405
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901038_901038
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8285230
  8425685
  140456
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901074_901074
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6536356
  8167012
  1630657
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901095_901095
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6536356
  8162920
  1626565
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902508_902508
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8006913
  8167012
  160100
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902607_902607
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6619562
  6736657
  117096
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902737_902737
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7463267
  7515825
  52559
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902746_902746
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8295056
  8422896
  127841
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902773_902773
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8633679
  8736382
  102704
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902955_902955
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7610697
  8280548
  669852
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902955_902955
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8328098
  8409115
  81018
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11575.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  7050295
  8170349
  1120055
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12380.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6533744
  8127386
  1593643
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13043.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6533744
  8466383
  1932640
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13093.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6534395
  8465552
  1931158
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13585.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  7843497
  8170349
  326853
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13586.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  7900685
  7926119
  25435
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14283.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6533744
  8127386
  1593643
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C27518
 
 
  Control
 
 
  8555676
  8664846
  109171
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11168.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  7405889
  7582097
  176209
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11235.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  7077376
  7181022
  103647
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11258.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  6624741
  6736657
  111917
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11277.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  7680936
  7802419
  121484
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11296.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  8630629
  8744580
  113952
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11379.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  7841042
  8469952
  628911
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11446.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  6546218
  6899165
  352948
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11479.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  6536356
  6862849
  326494
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11479.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  8106530
  8167012
  60483
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11575.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  6538899
  8162920
  1624022
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11634.s1
  9.9
  M
  Control (matched sibling)
  NA
  NA
  8528345
  8536611
  8267
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  7680936
  7704171
  23236
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  6536356
  6862849
  326494
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  8106530
  8167012
  60483
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12062.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  8469225
  8749178
  279954
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  8285230
  8426212
  140983
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12229.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  8285230
  8426212
  140983
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12380.s1
  17
  F
  Control (matched sibling)
  NA
  NA
  6546218
  8167012
  1620795
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12444.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  6538899
  6736657
  197759
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12444.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  8143396
  8176847
  33452
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12630.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  8285230
  8426212
  140983
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12787.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  7405889
  7578127
  172239
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12853.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  6533711
  6614031
  80321
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13006.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  8285230
  8426212
  140983
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13015.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  8204317
  8210647
  6331
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13093.s1
  16.2
  F
  Control (matched sibling)
  NA
  NA
  6528784
  8162920
  1634137
  GRCh38
  Duplication
  No
  wang_10_ASD_discovery_controls-Aut157
  41
  F
  Control
  NA
  NA
  6540125
  8184147
  1644023
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 barber_12_ASD_discovery_cases-case2
 
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 bartnik_12_EP_discovery_cases-case20
 
 
 Paternal
 
 
 MIR651,VCX2,PNPLA4
 
 battaglia_13_DD/ID/ASD_discovery_cases-case45
 FISH or qPCR
 
 Maternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,PUDP,STS
 
 battaglia_13_DD/ID/ASD_discovery_cases-case75
 FISH or qPCR
 Maternal
 Maternal
 Possible multi-generational
 Segregated
 MIR4770,VCX3A,NLGN4X
 
 chehbani_22_ASD_discovery_cases-case57
 
 
 Unknown
 Simplex
 
 NLGN4X,RPS5P8,MIR4770
 
 chen_17_ASD_discovery_cases-caseU-1344
 RT-qPCR
 
 Unknown
 
 
 MIR4770,VCX3A,NLGN4X
 
 chen_17_ASD_discovery_cases-caseU-1626
 RT-qPCR
 
 Unknown
 
 
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 chen_17_ASD_discovery_cases-caseU-2200
 RT-qPCR
 
 Unknown
 
 
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 chen_17_ASD_discovery_cases-caseU-919
 RT-qPCR
 
 Unknown
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 davis_09_ASD_discovery_cases-AU026803
 
 
 Unknown
 Unknown
 Unknown
 VCX3A, HDHD1A, STS, VCX
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299789
 
 
 Maternal
 
 
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300165
 
 
 De novo
 
 
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300211
 
 
 Maternal
 
 
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300318
 
 
 Unknown
 
 
 RPS27AP17,PUDP
 
 engchuan_15_ASD_discovery_cases-case13116_1333
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13160_1773
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14080_1360
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14111_2000
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14203_3290
 
 
 Unknown
 
 
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 engchuan_15_ASD_discovery_cases-case14378_4910
 
 
 Unknown
 
 
 DRAXINP1,RNA5SP499,FAM9A,ANOS1,FAM9B
 
 engchuan_15_ASD_discovery_cases-case14412_5210
 
 
 Unknown
 
 
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 engchuan_15_ASD_discovery_cases-case14415_5240
 
 
 Unknown
 
 
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 engchuan_15_ASD_discovery_cases-case17023_1
 
 
 Unknown
 
 
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 engchuan_15_ASD_discovery_cases-case18085_302
 
 
 Unknown
 
 
 MIR4767,PUDP,STS
 
 engchuan_15_ASD_discovery_cases-case18118_302
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case21021_1
 
 
 Unknown
 
 
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 engchuan_15_ASD_discovery_cases-case21022_1
 
 
 Unknown
 
 
 ANOS1
 
 engchuan_15_ASD_discovery_cases-case3087_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3536_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4022_1
 
 
 Unknown
 
 
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 engchuan_15_ASD_discovery_cases-case4147_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4240_1
 
 
 Unknown
 
 
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 engchuan_15_ASD_discovery_cases-case4276_1
 
 
 Unknown
 
 
 ANOS1
 
 engchuan_15_ASD_discovery_cases-case4530_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5008_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5015_3
 
 
 Unknown
 
 
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 engchuan_15_ASD_discovery_cases-case5296_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6177_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6177_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6352_3
 
 
 Unknown
 
 
 VCX,MIR651,PNPLA4
 
 engchuan_15_ASD_discovery_cases-case6352_3
 
 
 Unknown
 
 
 VCX3A,RPS27AP17
 
 gai_11_ASD_discovery_cases-AU0994301
 
 
 Inherited
 
 
 VCX, PNPLA4
 
 gai_11_ASD_replication_cases-AU0943301
 
 
 Inherited
 
 
 VCX3A
 
 gannon_11_ASD/DD_discovery_cases-patientW
 
 
 Unknown
 Unknown
 
 NA
 
 gazzellone_14_ASD_discovery_cases-case685-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_12_ASD/DD/ID_discovery_cases-case23391
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 girirajan_12_ASD/DD/ID_discovery_cases-case26112
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 girirajan_12_ASD/DD/ID_discovery_cases-case27397
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 goitia_15_ASD_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 HDH1, STS, VCX, PNPLA4
 
 griswold_12_ASD_discovery_cases-case7955
 qPCR
 
 Maternal
 Simplex
 Not segregated
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 handrigan_13_ASD/DD/ID_discovery_cases-patient7
 
 
 Maternal
 Unknown
 Unknown
 VCX,PNPLA4
 
 hnoonual_17_ASD_discovery_cases-caseTU4
 
 
 Maternal
 
 
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 iourov_12_ASD/ID/EP_discovery_cases-case46
 
 
 Unknown
 Unknown
 Unknown
 NLGN4X
 
 iourov_12_ASD/ID/EP_discovery_cases-case53
 FISH
 
 Unknown
 Unknown
 Unknown
 STS
 
 jiao_19_EP/DD/ID_discovery_cases-case71672
 
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000818
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000908
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000943
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001014
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MIR651,VCX2,VCX3B,PNPLA4,ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001122
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001579
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001895
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001951
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002035
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002044
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002158
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 VCX2,VCX3B,ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002236
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002487
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002597
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002739
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003821
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003868
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003993
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004152
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004339
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004404
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 VCX3B,ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004427
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004523
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004559
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004603
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004688
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004719
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004769
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR651,VCX2,PNPLA4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004847
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DRAXINP1,FAM9A,ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004855
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004866
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004884
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004902
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005358
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005428
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR651,VCX2,VCX3B,ANOS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005687
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 
 
 krumm_15_ASD_discovery_cases-case11043.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 krumm_15_ASD_discovery_cases-case11435.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,PNPLA4,PUDP,STS
 
 krumm_15_ASD_discovery_cases-case11468.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 MIR4767,PUDP,STS
 
 krumm_15_ASD_discovery_cases-case12286.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 krumm_15_ASD_discovery_cases-case12640.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 MIR4767,PUDP,STS
 
 krumm_15_ASD_discovery_cases-case13093.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MIR4767,VCX,MIR651,VCX2,VCX3B,PNPLA4,PUDP,STS
 
 krumm_15_ASD_discovery_cases-case13585.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 VCX,MIR651,VCX2,VCX3B,PNPLA4
 
 krumm_15_ASD_discovery_cases-case14028.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,PNPLA4,PUDP,STS
 
 krumm_15_ASD_discovery_cases-case14247.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,PNPLA4,PUDP,STS
 
 kushima_18_SCZ_discovery_cases-caseSCZ0478
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Inherited
 Not simplex
 Unknown
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 kushima_18_SCZ_discovery_cases-caseSCZ0548
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Simplex
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 kushima_18_SCZ_discovery_cases-caseSCZ0843
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Simplex
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 lesca_12_EP_discovery_cases-caseEC73
 qPCR
 
 Maternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 maini_18_ASD/DD/ID_discovery_cases-case128
 
 
 Maternal
 Not simplex
 Unknown
 STS
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown226
 
 
 Paternal
 Unknown
 Unknown
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown227
 
 
 Maternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown228
 
 
 Maternal
 Unknown
 Unknown
 VCX,MIR651,PNPLA4
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown229
 
 
 Paternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown230
 
 
 Maternal
 Unknown
 Unknown
 VCX,MIR651,PNPLA4
 
 monteiro_19_ASD_discovery_cases_case21
 
 
 Unknown
 
 
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 nava_13_ASD_discovery_cases-Fam555Proband9372
 
 
 Maternal
 Simplex
 Unknown
 RPS27AP17,MIR4767,PUDP,STS
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC59120
 FISH
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 oikonomakis_16_ASD_discovery_cases-case244
 
 
 Unknown
 
 
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 oikonomakis_16_ASD_discovery_cases-case687
 
 
 Unknown
 
 
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 oikonomakis_16_ASD_discovery_cases-case69
 
 
 Maternal
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 pinto_10_ASD_discovery_cases-case5008_3
 Agilent1M
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5015_4
 Agilent1M
 
 maternal
 NA
 NA
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 pinto_14_ASD_discovery_cases2-case4240_1
 qPCR (Griswold et al. 2011, PMID: 21360829)
 
 Maternal (X-linked in a male)
 Simplex
 Possible X-linked segregation (deletion present in unaffected sister)
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 prasad_12_ASD_discovery_cases-case115728L
 
 
 Unknown
 Unknown
 Unknown
 KAL1,FAM9A
 
 prasad_12_ASD_discovery_cases-case138151L
 
 
 Unknown
 Unknown
 Unknown
 KAL1
 
 prasad_12_ASD_discovery_cases-case146442L
 
 
 Unknown
 Unknown
 Unknown
 FAM9B
 
 prasad_12_ASD_discovery_cases-case88813
 
 
 Unknown
 Unknown
 Unknown
 NLGN4X
 
 quintela_15_ASD/ADHD/ID_discovery_cases-case1
 
 
 Maternal
 Simplex
 Unknown (possible X-linked segregation)
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 quintela_17_DD/ID_discovery_cases-caseID_128
 
 
 Unknown
 
 Unknown
 VCX3A
 
 rajcan-separovic_07_ASD_discovery_cases-subject1
 FISH
 
 Paternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PUDP,STS
 
 reinthaler_14_EP_discovery_cases-caseAVRE09
 
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 rosenfeld_10_ASD_discovery_cases-case10659
 FISH
 
 Maternal
 Unknown
 Unknown
 HDHD1,STS
 
 rosenfeld_10_ASD_discovery_cases-case11977
 FISH
 
 Maternal
 Unknown
 Unknown
 HDHD1,STS,VCX,PNPLA4
 
 rosenfeld_10_ASD_discovery_cases-case16490
 FISH
 
 Maternal
 Unknown
 Unknown
 VCX3A
 
 rosenfeld_10_ASD_discovery_cases-case20838
 FISH
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 rosenfeld_10_ASD_discovery_cases-case26397
 FISH
 
 Maternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1029-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 VCX,MIR651,PNPLA4
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1029-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,PUDP,STS
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1630-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ANOS1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-222
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 VCX,PNPLA4
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-142
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 VCX,PNPLA4
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-142
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,MIR4767,PUDP,STS
 
 sanders_11_ASD_discovery_cases-11043.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 sanders_11_ASD_discovery_cases-11087.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MIR4767,PUDP,STS
 
 sanders_11_ASD_discovery_cases-11122.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ANOS1
 
 sanders_11_ASD_discovery_cases-11235.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR4767,PUDP
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11435.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 sanders_11_ASD_discovery_cases-11446.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 VCX3A
 
 sanders_11_ASD_discovery_cases-11468.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RPS27AP17,MIR4767,PUDP,STS
 
 sanders_11_ASD_discovery_cases-11555.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11556.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11911.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12073.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12286.p1
 
 
 Unknown
 Simplex (trio)
 NA
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 sanders_11_ASD_discovery_cases-12435.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 VCX3A
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12640.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RPS27AP17,MIR4767,PUDP,STS
 
 sanders_11_ASD_discovery_cases-12908.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13089.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MIR4770,VCX3A,NLGN4X
 
 sanders_11_ASD_discovery_cases-13093.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 schaefer_10_ASD_discovery_cases-case11
 FISH
 Possibly paternal
 Paternal
 Unknown
 Unknown
 NA
 
 schaefer_10_ASD_discovery_cases-case12
 FISH
 
 Unknown
 Unknown
 Unknown
 NA
 
 schaefer_10_ASD_discovery_cases-case13
 FISH
 
 Unknown
 Unknown
 Unknown
 NA
 
 schuch_19_ASD_discovery_cases-case12
 
 
 Unknown
 Unknown
 Unknown
 MIR651
 
 schuch_19_ASD_discovery_cases-case12
 
 
 Unknown
 Unknown
 Unknown
 RPS27AP17,PUDP
 
 shen_10_ASD_discovery_cases-ASD-09-077
 
 
 Maternal
 NA
 NA
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 shen_10_ASD_discovery_cases-ASD-09-078
 
 
 Unknown
 NA
 NA
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 silva_14_ASD_discovery_cases-case1
 
 
 Maternal
 Simplex
 Unknown
 0 genes
 
 tropeano_16_ASD/NDD_replication_cases-case77
 
 
 Maternal
 Unknown
 Unknown
 RPS27AP17,MIR4767,PUDP,STS
 
 tzetis_12_DD/ID_discovery_cases-case64
 
 
 Maternal
 Unknown
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 tzetis_12_DD/ID_discovery_cases-case65
 
 
 Maternal
 Unknown
 
 RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case17
 
 
 Unknown (not tested)
 
 
 RPS27AP17,MIR4767,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case18
 
 
 Unknown (not tested)
 
 
 MIR4767,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case19
 
 
 Unknown (not tested)
 
 
 RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case20
 
 
 Maternal
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case21
 
 
 Maternal
 
 
 VCX3A,RPS27AP17,MIR4767,VCX,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case38
 
 
 Paternal
 
 
 MIR4770,VCX3A,NLGN4X
 
 willemsen_12_DD/ID_discovery_cases-case39
 
 
 Unknown (not tested)
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case40
 
 
 Unknown (not tested)
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case41
 
 
 Maternal
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case42
 
 
 Maternal
 
 
 MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case43
 
 
 Maternal
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case44
 
 
 Maternal
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case45
 
 
 Unknown (not tested)
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case46
 
 
 Unknown (not tested)
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case47
 
 
 Maternal
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case48
 
 
 Unknown (not tested)
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case49
 
 
 Unknown (not tested)
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 willemsen_12_DD/ID_discovery_cases-case50
 
 
 Unknown (not tested)
 
 
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
 woodbury-smith_20_ASD_discovery_cases-case3-0393-000
 
 
 De novo
 Extended multiplex
 Not segregated
 RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC05986
  SNP VCF
 
  De novo
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-control110036007961_
 
 
  Unknown
 
 
  VCX3B,DRAXINP1,FAM9A,ANOS1
 
engchuan_15_ASD_discovery_controls-control110036019776_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036020733_
 
 
  Unknown
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-control110036021301_
 
 
  Unknown
 
 
  RPS27AP17,MIR4767,PUDP,STS
 
engchuan_15_ASD_discovery_controls-control110036024487_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB177474_0057061567
 
 
  Unknown
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlB229893_1007841234
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB237493_1007841091
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB237493_1007841091
 
 
  Unknown
 
 
  VCX,MIR651,PNPLA4
 
engchuan_15_ASD_discovery_controls-controlB247542_1007853676
 
 
  Unknown
 
 
  VCX3A
 
engchuan_15_ASD_discovery_controls-controlB248665_1007854152
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB302401_1007853745
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB413550_1007872281
 
 
  Unknown
 
 
  RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB427661_1007840422
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB427661_1007840422
 
 
  Unknown
 
 
  MIR651
 
engchuan_15_ASD_discovery_controls-controlB444871_1007853318
 
 
  Unknown
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlB476727_1007873494
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB478115_1007842238
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB478535_1007873318
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB522577_1007840898
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB524961_1007872292
 
 
  Unknown
 
 
  RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlB538534_1007854364
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB582347_1007848500
 
 
  Unknown
 
 
  ANOS1
 
engchuan_15_ASD_discovery_controls-controlB608968_1007875795
 
 
  Unknown
 
 
  ANOS1
 
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
 
 
  Unknown
 
 
  VCX3A
 
engchuan_15_ASD_discovery_controls-controlB614568_1007871710
 
 
  Unknown
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlB667434_1007854745
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB667434_1007854745
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB685540_1007852919
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB685540_1007852919
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB703094_1007854334
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB704695_1007844443
 
 
  Unknown
 
 
  MIR651,VCX2,VCX3B,PNPLA4
 
engchuan_15_ASD_discovery_controls-controlB706773_1007843551
 
 
  Unknown
 
 
  VCX3A
 
engchuan_15_ASD_discovery_controls-controlB706773_1007843551
 
 
  Unknown
 
 
  VCX,MIR651,PNPLA4
 
engchuan_15_ASD_discovery_controls-controlB736147_1007871696
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB748118_1007874904
 
 
  Unknown
 
 
  ANOS1
 
engchuan_15_ASD_discovery_controls-controlB751447_1007846052
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB781973_1007874689
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB818952_1007874830
 
 
  Unknown
 
 
  MIR651
 
engchuan_15_ASD_discovery_controls-controlB818952_1007874830
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB846568_1007853715
 
 
  Unknown
 
 
  RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlB890930_1007874394
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB892844_1007875170
 
 
  Unknown
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlB923510_1007875812
 
 
  Unknown
 
 
  MIR4770,VCX3A
 
engchuan_15_ASD_discovery_controls-controlB972203_1007842429
 
 
  Unknown
 
 
  VCX3B
 
engchuan_15_ASD_discovery_controls-controlB985683_1007875312
 
 
  Unknown
 
 
  MIR651,VCX2,VCX3B,PNPLA4
 
engchuan_15_ASD_discovery_controls-controlB994805_1007853994
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900135_900135
 
 
  Unknown
 
 
  VCX3A
 
engchuan_15_ASD_discovery_controls-controlHABC_900135_900135
 
 
  Unknown
 
 
  VCX,MIR651,PNPLA4
 
engchuan_15_ASD_discovery_controls-controlHABC_900324_900324
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900353_900353
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900403_900403
 
 
  Unknown
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlHABC_900441_900441
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900690_900690
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
 
 
  Unknown
 
 
  VCX3A
 
engchuan_15_ASD_discovery_controls-controlHABC_900715_900715
 
 
  Unknown
 
 
  VCX,PNPLA4,STS
 
engchuan_15_ASD_discovery_controls-controlHABC_900902_900902
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901038_901038
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901074_901074
 
 
  Unknown
 
 
  RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlHABC_901095_901095
 
 
  Unknown
 
 
  RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
engchuan_15_ASD_discovery_controls-controlHABC_902508_902508
 
 
  Unknown
 
 
  MIR651
 
engchuan_15_ASD_discovery_controls-controlHABC_902607_902607
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902737_902737
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902746_902746
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902773_902773
 
 
  Unknown
 
 
  ANOS1
 
engchuan_15_ASD_discovery_controls-controlHABC_902955_902955
 
 
  Unknown
 
 
  VCX,MIR651,VCX2,PNPLA4
 
engchuan_15_ASD_discovery_controls-controlHABC_902955_902955
 
 
  Unknown
 
 
 
 
krumm_15_ASD_discovery_controls-control11575.s1
  Illumina 1M
 
  Paternal
 
 
  MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 
krumm_15_ASD_discovery_controls-control12380.s1
  Illumina 1MDuo
 
  Paternal
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
krumm_15_ASD_discovery_controls-control13043.s1
  1M-Duov3
 
  Maternal
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,PNPLA4,PUDP,STS
 
krumm_15_ASD_discovery_controls-control13093.s1
  Illumina 1MDuo
 
  Maternal
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,PNPLA4,PUDP,STS
 
krumm_15_ASD_discovery_controls-control13585.s1
  1M-Duov3
 
  Maternal
 
 
  VCX,MIR651,VCX2,PNPLA4
 
krumm_15_ASD_discovery_controls-control13586.s1
  1M-Duov3
 
  Maternal
 
 
  PNPLA4
 
krumm_15_ASD_discovery_controls-control14283.s1
  Omni2.5-4v1
 
  Paternal
 
 
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
nord_11_ASD_discovery_controls-04C27518
 
 
 
 
 
  KAL1
 
sanders_11_ASD_discovery_controls-11168.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11235.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR4767,PUDP
 
sanders_11_ASD_discovery_controls-11258.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11277.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11296.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ANOS1
 
sanders_11_ASD_discovery_controls-11379.s1
 
 
  Both parents
  Simplex (quad)
  NA
  VCX,MIR651,VCX2,VCX3B,PNPLA4
 
sanders_11_ASD_discovery_controls-11446.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11479.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11479.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR651
 
sanders_11_ASD_discovery_controls-11575.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
sanders_11_ASD_discovery_controls-11634.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ANOS1
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR651
 
sanders_11_ASD_discovery_controls-12062.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ANOS1
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12229.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12380.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
sanders_11_ASD_discovery_controls-12444.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12444.s1
 
 
  Unknown
  Simplex (quad)
  NA
  VCX2
 
sanders_11_ASD_discovery_controls-12630.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12787.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12853.s1
 
 
  Maternal
  Simplex (quad)
  NA
  VCX3A
 
sanders_11_ASD_discovery_controls-13006.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13015.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13093.s1
 
 
  Maternal
  Simplex (quad)
  NA
  VCX3A,RPS27AP17,MIR4767,VCX,MIR651,PNPLA4,PUDP,STS
 
wang_10_ASD_discovery_controls-Aut157
 
 
  Unknown
  NA
  NA
  RPS27AP17,MIR4767,VCX,MIR651,VCX2,PNPLA4,PUDP,STS
 

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