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3q26.1CNV Type: Deletion-Duplication


Largest CNV size: 543367 bp

Statistics Box:
Number of Reports: 24



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion-Duplication
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
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
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion-Duplication
NA
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 73928
 2
 0
 2
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 509222
 3
 0
 3
 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
 24283
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 504000
 1
 0
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 402887
 0
 5
 5
 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
 2030348
 2
 1
 3
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 20475
 1
 0
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 113324
 2
 0
 2
 li_18_ASD_discovery_cases
 Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
 13
 Diagnosis of ASD made according to DSM-IV
 Mean age, 4.56 0.97 years
 92.31% Male
 221926
 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
 408000
 2
 0
 2
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 457000
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 15910
 2
 0
 2
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 104607
 1
 1
 2
 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
 
 
 543367
 5
 2
 7
 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
 164929
 2
 1
 3
 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
 154136
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 542084
 88
 10
 98
 sato_12_ASD_discovery_cases_1
 Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
 1614
 Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
 NA
 78.07% Male
 71704
 0
 1
 1
 sato_12_ASD_discovery_cases_2
 Three additional affected males from four-generation family with ASD/BAP
 3
 Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
 Range, 5 yrs. 8 mos.-95 yrs.
 100% Male
 18804
 1
 0
 1
 shen_10b_ASD_discovery_cases
 Father and son from a three-generation Chinese family with ASD and language delay.
 2
 Diagnosis of ASD based upon DSM-IV criteria.
 Range, 12-41 yrs.
 100% Male
 104548
 1
 0
 1
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 977000
 1
 1
 2
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 164661
 0
 1
 1
 tabet_12_ASD_discovery_cases
 Three affected siblings from an autism multiplex family born to non-consanguineous parents.
 3
 Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
 Range, 17 yrs. 6 mos.-21 yrs.
 100% Male
 81247
 1
 0
 1
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 112847
 1
 1
 2
 vaags_11_ASD_replication_cases_2
 Replication cohort consisting of patients referred to the Mayo Clinic
 1796
 Autism or pervasive developmental disorder (PDD)
 NA
 NA
 105040
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 24977
 4
 0
 4

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 605805
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 24386
 2
 2
 4
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 96651
 0
 2
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 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)
 164929
 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.
 
 542084
 73
 14
 87
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 0
 0
 0
 0
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
 N/A
 N/A
 164661
 0
 1
 1
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 24977
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 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
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 li_18_ASD_discovery_cases
  Chinese
 Low-coverage WGS
  Illumina HiSeq 2000 or 2500 analyzers
 PSCC
 
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 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)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 sato_12_ASD_discovery_cases_1
  Canadian (n=1158) and European (n=456)
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
 DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
 
 None
 sato_12_ASD_discovery_cases_2
  Canadian
 aCGH
  Agilent SurePrint G3 Human CGH 1x1M
 DNA Analytics, CBS/DNAcopy
 
 None
 shen_10b_ASD_discovery_cases
  Chinese
 aCGH
  Agilent 244K
 
 DNA Analytics
 
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 tabet_12_ASD_discovery_cases
  Mixed ethnic background (father Caucasian, mother from Mauritius)
 Solid phase hybridization
  Illumina HumanCNV370-Duo BeadChip
 CNVPartition v3.1.1, Penn CNV
 BeadStudio v3.2
 None
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 vaags_11_ASD_replication_cases_2
  NA
 aCGH
  Agilent 44K & 244K
 
 
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
  Affymetrix ChAS
  None
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 162795349
 162828429
  33081
 GRCh38
 Deletion
 No
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 162834268
 162908195
  73928
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU057503
 
 
 Autism
 
 
 163919796
 163987015
  67220
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU069303
 
 
 Autism
 
 
 165271025
 165780246
  509222
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU069304
 
 
 Autism
 
 
 165271025
 165780246
  509222
 Unknown
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case535-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 164371151
 164395434
  24284
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13722.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 160949518
 161449518
  500001
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-25505102977
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 162783023
 163185910
  402888
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-40208110630
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 162816689
 163118930
  302242
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-59704102165
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 162816689
 163185910
  369222
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-60104102183
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 162816689
 163185910
  369222
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-63205104572
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 162783023
 163084944
  301922
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003789
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 161083963
 163114311
  2030349
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004728
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 160060060
 160985414
  925355
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005158
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 166493319
 166941997
  448679
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11450.p1
 NA
 M
 ASD
 NA
 NA
 164452142
 164472616
  20475
 GRCh38
 Deletion
 Yes
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 162794869
 162906093
  111225
 GRCh38
 Deletion
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 24 yrs.
 M
 Schizophrenia
 Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
 Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
 162794869
 162908192
  113324
 GRCh38
 Deletion
 No
  li_18_ASD_discovery_cases-case6101
 N/A
 F
 ASD
 Diagnosis of ASD made according to DSM-IV
 
 161841473
 162063399
  221927
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown151
  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)
 
 163007690
 163265405
  257716
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown152
  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)
 
 163007690
 163415727
  408038
 GRCh38
 Deletion
 No
  morrow_08_ASD_discovery_cases-case7301
 NA
 
 ASD
 NA
 NA
 163975000
 164432000
  457000
 Unknown
 Deletion
 No
  nord_11_ASD_discovery_cases-204-1
 
 
 ASD
 
 
 161839944
 161849825
  9882
 Unknown
 Deletion
 No
  nord_11_ASD_discovery_cases-207-1
 
 
 ASD
 
 
 167529293
 167545202
  15910
 Unknown
 Deletion
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 N/A
 M
 ASD and ADHD
 Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
 TIQ score of 109
 162796746
 162901353
  104608
 GRCh38
 Duplication
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
 N/A
 F
 Intellectual disability and ADHD
 Developmental milestones: motor delay; language delay. Motor and musculoskeletal evaluation: dyspraxia; strabismus. Behavioral/psychiatric evaluation: ADHD; some stereotypic behaviors. Brain imaging: delayed myelination detected on brain MRI. Family history: mild cognitive impairment and langauge delay in the father's cousin's daughter; sister of his maternal grandmother developed a brain tumor.
 Mild intellectual disability (Leiter-R IQ score of 60)
 162832028
 162908227
  76200
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1213_3
 NA
 M
 ASD
 NA
 NA
 163613385
 163709228
  95844
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case1258_4
 NA
 M
 ASD
 NA
 NA
 165273764
 165817130
  543367
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case13046_553
 NA
 M
 Autism
 Verbal
 Normal IQ
 164004033
 164101579
  97546
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case13108_1253
 NA
 M
 Autism
 Verbal
 Borderline IQ
 164004033
 164101579
  97547
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5120_3
 NA
 M
 ASD
 NA
 NA
 163352358
 163442323
  89966
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5427_3
 NA
 M
 ASD
 NA
 NA
 165144226
 165187383
  43158
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5430_4
 NA
 M
 ASD
 NA
 NA
 167268686
 167424307
  155622
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case115533
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 165126285
 165244506
  118222
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case61028L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 165558301
 165570081
  11781
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case69002
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 167263707
 167428635
  164929
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1071-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
 Developmental delay: no. Intellectual disability: yes.
 162990190
 163144325
  154136
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11001.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
 162490274
 162511796
  21523
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11011.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11028.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 166590755
 166745006
  154252
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 162652075
 162682832
  30758
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 165557987
 165608677
  50691
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11107.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 37; verbal IQ, 25
 165547401
 165550120
  2720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11110.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 160963826
 160966932
  3107
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11250.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11254.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 94; verbal IQ, 48
 162496088
 162511796
  15709
 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
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11331.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11345.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11360.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11396.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
 165323075
 165380320
  57246
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11410.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
 162990190
 163182142
  191953
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11421.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
 165323075
 165366755
  43681
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11450.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
 164452363
 164464934
  12572
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11538.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 85
 161700078
 161829856
  129779
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11549.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
 165547401
 165571636
  24236
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11554.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11561.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
 164049946
 164108574
  58629
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11575.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11600.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
 165547401
 165550120
  2720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11616.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 164693747
 164709918
  16172
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11679.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11698.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
 162387694
 162424687
  36994
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11709.p1
 6.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59
 162490065
 162511796
  21732
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11845.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 165547401
 165571636
  24236
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 162151876
 162238888
  87013
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11888.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
 166338613
 166660923
  322311
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11888.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
 166060214
 166096812
  36599
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11894.p1
 5.4
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
 165547401
 165550120
  2720
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11901.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 27
 160609801
 160618423
  8623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11914.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
 163940569
 163947429
  6861
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11916.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 165547401
 165571636
  24236
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11996.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12057.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12072.p1
 15.6
 F
 Autism
 NA
 Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
 161700078
 161836523
  136446
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12099.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
 161700078
 161829856
  129779
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12120.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
 162136431
 162136930
  500
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12189.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
 165547401
 165571636
  24236
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12192.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
 165324003
 165380320
  56318
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12212.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 20
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12221.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
 161960322
 161988746
  28425
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12224.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
 165323075
 165359625
  36551
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12229.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
 165366755
 165381125
  14371
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12243.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
 161700078
 161838426
  138349
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12250.p1
 10.8
 F
 Aspergers
 NA
 Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
 163943744
 163947429
  3686
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12252.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
 166849867
 166862213
  12347
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12274.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12297.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12331.p1
 12.3
 M
 Aspergers
 NA
 Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12347.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12355.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 163275332
 163304758
  29427
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12370.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 127; verbal IQ, 123
 165486555
 165688241
  201687
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12385.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 55; verbal IQ, 58
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12396.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12420.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12423.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12494.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
 163943744
 163947429
  3686
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12524.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
 165323075
 165359625
  36551
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12539.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 163943744
 163947429
  3686
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12541.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 133; verbal IQ, 108
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12614.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12621.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 96
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12626.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 111; verbal IQ, 76
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12637.p1
 7.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
 163943744
 163947429
  3686
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 165541222
 165571636
  30415
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12650.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
 166068204
 166227968
  159765
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12691.p1
 10.9
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12695.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12703.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 58; verbal IQ, 61
 165324003
 165380320
  56318
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12723.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12796.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
 160300736
 160320116
  19381
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12828.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12838.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12858.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12888.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
 165547401
 165571636
  24236
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12941.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
 162496088
 162511796
  15709
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12997.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 162312000
 162854084
  542085
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12998.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
 164383405
 164391589
  8185
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13015.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 165547401
 165571636
  24236
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13035.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13048.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 164452363
 164605395
  153033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13070.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13082.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
 163943744
 163946497
  2754
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13097.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
 165547401
 165571636
  24236
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13169.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13322.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
 165324003
 165359625
  35623
 GRCh38
 Deletion
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 162835966
 162907669
  71704
 GRCh38
 Duplication
 No
  sato_12_ASD_discovery_cases_2-family1caseIV-3
 5 yrs. 8 mos.
 M
 Asperger
 Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
 Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
 162808639
 162827442
  18804
 GRCh38
 Deletion
 No
  shen_10b_ASD_discovery_cases-caseIII:1
 12 yrs.
 M
 ASD
 Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
 Mental retardation. WISC IQ score of 46.
 163997228
 164101776
  104548
 Unknown
 Deletion
 No
  soueid_16_ASD_discovery_cases-caseLAS15
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 165485782
 165688968
  203187
 GRCh38
 Duplication
 No
  soueid_16_ASD_discovery_cases-caseSAI31
 N/A
 
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 162464393
 163441160
  976768
 GRCh38
 Deletion
 No
  stamouli_18_ASD/NDD_discovery_cases-family53_Twin_2
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
 
 163011375
 163176035
  164661
 GRCh38
 Duplication
 No
  tabet_12_ASD_discovery_cases-patient2
 17 yrs. 6 mos.
 M
 Autism
 Clinical diagnosis of autism. ADI-R evaluation (at 3 yrs. 2 mos.): social score, 23; communication score, 14 (non-verbal); repetitive behavior, 4; onset, 4; diagnosis of autism. ADOS module 1 evaluation (at 18 yrs. 5 mos.): communication, 6; social interaction, 14; total; 20; play, 4; interesta and behavior, 8; diagnosis of autism. CARS evaluation (at 10 yrs. 3 mos.): composite score of 37; diagnosis of mild-moderate autism. VABS II evaluation (at 18 yrs. 5 mos.): communication, 11; daily living, 23; socialization, 1; maladaptive behaviors, 20. Developmental milestones: normal development followed by regression at 26 mo; language regression at 26 mo; non verbal. Neurological evaluation: hyporeflexia, no motor deficit. Other behaviors: not fully toilet trained, hyperactivity, short and agitated sleep . Brain MRI: white matter hyperintensities, moderate cortical atrophy and thin corpus callosum. Dysmorphic features & malformations: triangular face, broad forehead, prominent orbital ridge, deep set eyes, upslanting palpebral fissures, thick upslant eyebrows, myopia, strabismus, large, prominent nasal bridge, wide, bulbous tip, anteverted nares, everted lower lip, tented philtrum wide cupid's bow, overbite, retrognathia with marked chin, backward tilted ears, ventricular septal defect (VSD), slender habitus, sternum deformity, mild scoliosis, cubitus valgus, long fingers and toes, bilateral single palmar creases and sandal gap. Growth parameters: height, 173 cm (normal range); weight, 49 kg (-2 SD); head circumference, 55 cm (-1 SD). Recurrent infections: recurrent otitis, nose and throat infections in childhood. Family history: monozygotic twin brother with autism; older brother with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
 Severe intellectual disability. Ravens Colored Progressive Matrices (RCPM) at 18 yrs 4 mos.: full-scale IQ <1st %ile
 162803551
 162884798
  81248
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF1-003
 16 yrs. 7 mos.
 M
 Asperger syndrome
 Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
 Leiter-R IQ: 119 (92nd %ile)
 162795361
 162908207
  112847
 GRCh38
 Duplication
 No
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 162837065
 162901097
  64033
 GRCh38
 Deletion
 No
  vaags_11_ASD_replication_cases_2-probandF4-003
 3 yrs. 6 mos.
 M
 Autism
 Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 162796314
 162901353
  105040
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case153
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 162769881
 162794857
  24977
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case154
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 162769881
 162794857
  24977
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case155
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 162769881
 162794857
  24977
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case156
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 162908195
 162910814
  2620
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  girirajan_13b_ASD_discovery_controls-57305104494
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  162715173
  163320978
  605806
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1516
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  166522847
  166531981
  9135
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1593
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  163658357
  163664285
  5929
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split164
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  162130691
  162155076
  24386
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split2103
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  162130691
  162142475
  11785
  Unknown
  Duplication
  No
  krumm_15_ASD_discovery_controls-control12794.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  164979361
  165076012
  96652
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13583.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  164979361
  165076012
  96652
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11028.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  164985165
  164988854
  3690
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11051.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  162977695
  163382173
  404479
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11094.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  165547401
  165550120
  2720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11101.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  165304446
  165359625
  55180
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11101.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  167442043
  167518050
  76008
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11106.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  166805059
  166815639
  10581
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11107.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11110.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11148.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  165323075
  165359625
  36551
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11201.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  162151876
  162227323
  75448
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11245.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  160963826
  160966932
  3107
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11250.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11289.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11345.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  165040842
  165108176
  67335
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11367.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  162446838
  162511796
  64959
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11396.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11424.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  166805059
  166815639
  10581
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11439.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  164568429
  164587834
  19406
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11450.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  166805059
  166814193
  9135
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11475.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  165547401
  165585353
  37953
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11504.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  163943744
  163947429
  3686
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11536.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  164996744
  165072097
  75354
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11550.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8.9
  M
  Control (matched sibling)
  NA
  NA
  164049946
  164108574
  58629
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11569.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  165323075
  165359625
  36551
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11571.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  162151876
  162238888
  87013
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11600.s1
  19.2
  M
  Control (matched sibling)
  NA
  NA
  165547401
  165550120
  2720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11654.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11657.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11673.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11718.s1
  23.6
  F
  Control (matched sibling)
  NA
  NA
  164507362
  164535435
  28074
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11869.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  166805059
  166815639
  10581
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11883.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  161700078
  161829856
  129779
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11894.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  165547401
  165550120
  2720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11901.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  160609801
  160618423
  8623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11916.s1
  6.9
  F
  Control (matched sibling)
  NA
  NA
  164693747
  164714889
  21143
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11922.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11935.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11940.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  163792407
  163935677
  143271
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12056.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  165771674
  165828928
  57255
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12057.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12057.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  163943744
  163946497
  2754
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12091.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  166810363
  166815639
  5277
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12099.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  161700078
  161829856
  129779
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12120.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  162136431
  162136930
  500
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12161.s1
  7.7
  F
  Control (matched sibling)
  NA
  NA
  165547401
  165550120
  2720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  165547401
  165594318
  46918
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12212.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12229.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  165366755
  165381125
  14371
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  161700078
  161829856
  129779
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12250.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  163943744
  163947429
  3686
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12261.s1
  21.5
  M
  Control (matched sibling)
  NA
  NA
  165547401
  165571636
  24236
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12323.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  162151876
  162238888
  87013
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12329.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  165350331
  165373690
  23360
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12347.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165366755
  42753
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12396.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12420.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12494.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  163943744
  163947429
  3686
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12524.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12541.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12574.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  162395328
  162424687
  29360
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12597.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12621.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12631.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12637.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  163943744
  163947429
  3686
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12650.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  166072214
  166227968
  155755
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12681.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12691.s1
  23.8
  M
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12723.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12786.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  165547401
  165557987
  10587
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12794.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  164976466
  165078852
  102387
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12796.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  160300736
  160320116
  19381
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12838.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165380320
  56318
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12858.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  165547401
  165571636
  24236
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12997.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  162312000
  162854084
  542085
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13035.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13048.s1
  15.6
  F
  Control (matched sibling)
  NA
  NA
  164452363
  164605395
  153033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13051.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13070.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13153.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  162496088
  162511796
  15709
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13153.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  165800316
  166153433
  353118
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13169.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13171.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13222.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  165324003
  165359625
  35623
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
 
  163011375
  163176035
  164661
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chung_11_ASD_discovery_cases-proband
 
 
 Maternal
 Simplex
 NA
 
 
 chung_11_ASD_discovery_cases-proband
 
 
 Maternal
 Simplex
 NA
 
 
 gai_11_ASD_replication_cases-AU057503
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU069303
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU069304
 
 
 Inherited
 
 
 0 genes
 
 gazzellone_14_ASD_discovery_cases-case535-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13a_ASD_discovery_cases-13722.p1
 
 
 Unknown
 Simplex
 Unknown
 EEF1GP4,PSMC1P7,RPL23AP42,LINC02067,PPM1L,B3GALNT1,NMD3,SPTSSB
 
 girirajan_13b_ASD_discovery_cases-25505102977
 
 
 Unknown
 Unknown
 Unknown
 RPS6P4,LINC01192
 
 girirajan_13b_ASD_discovery_cases-40208110630
 
 
 Unknown
 Unknown
 Unknown
 RPS6P4
 
 girirajan_13b_ASD_discovery_cases-59704102165
 
 
 Unknown
 Unknown
 Unknown
 RPS6P4,LINC01192
 
 girirajan_13b_ASD_discovery_cases-60104102183
 
 
 Unknown
 Unknown
 Unknown
 RPS6P4,LINC01192
 
 girirajan_13b_ASD_discovery_cases-63205104572
 
 
 Unknown
 Unknown
 Unknown
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003789
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 EEF1GP4,PSMC1P7,RPL23AP42,TOMM22P6,LINC02067,OTOL1,B3GALNT1,NMD3,SPTSSB
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004728
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 BRD7P2,C3orf80,MIR15B,MIR16-2,B3GAT3P1,RNU7-136P,SCARNA7,KRT8P12,RPL6P8,TRIM59,ARL14,IL12A-AS1,IFT80,KPNA4,PPM1L,SMC4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005158
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01326,RN7SKP298,PSAT1P4,CBX1P5
 
 levy_11_ASD_discovery_cases-11450.p1
 aCGH (Agilent 244K)
 
 De novo
 Simplex
 Segregated
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband5
 
 
 Unknown
 Simplex
 Unknown
 
 
 li_18_ASD_discovery_cases-case6101
 
 
 Unknown
 Simplex
 Unknown
 
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown151
 
 
 Maternal
 Unknown
 Unknown
 RPS6P4,LINC01192
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown152
 
 
 Maternal
 Unknown
 Unknown
 RPS6P4,LINC01192
 
 morrow_08_ASD_discovery_cases-case7301
 
 
 Paternal
 NA
 NA
 3' end of PPM1L
 
 nord_11_ASD_discovery_cases-204-1
 
 
 Maternal
 
 
 0 genes
 
 nord_11_ASD_discovery_cases-207-1
 
 
 Paternal
 
 
 0 genes
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 
 
 Paternal
 Multi-generational
 Unknown
 
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
 
 
 Maternal
 Multi-generational
 Unknown
 
 
 pinto_10_ASD_discovery_cases-case1213_3
 Illumina550
 
 maternal
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case1258_4
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case13046_553
 qPCR
 
 De novo
 N/A
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case13108_1253
 qPCR
 
 De novo
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case5120_3
 Agilent1M
 
 paternal
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case5427_3
 Agilent1M
 
 paternal
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case5430_4
 Agilent1M
 
 maternal
 NA
 NA
 0 genes
 
 prasad_12_ASD_discovery_cases-case115533
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case61028L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case69002
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1071-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RPS6P4,LINC01192
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11011.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11028.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RN7SKP298,PSAT1P4
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11107.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11110.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PPM1L
 
 sanders_11_ASD_discovery_cases-11250.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11254.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11331.p1
 
 
 Paternal
 Simplex (trio)
 NA
 LINC01322
 
 sanders_11_ASD_discovery_cases-11345.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Maternal
 Simplex (trio)
 NA
 LINC01322
 
 sanders_11_ASD_discovery_cases-11396.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11410.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RPS6P4,LINC01192
 
 sanders_11_ASD_discovery_cases-11421.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11450.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11538.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11549.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11554.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11561.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11575.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11600.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11616.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11679.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11698.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11709.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11845.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 LINC01322
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11888.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01326
 
 sanders_11_ASD_discovery_cases-11888.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11894.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11901.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11914.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11916.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-11996.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12057.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12072.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12099.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12120.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12189.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12192.p1
 
 
 Paternal
 Simplex (trio)
 NA
 LINC01322
 
 sanders_11_ASD_discovery_cases-12212.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12221.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12224.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12229.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12243.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12250.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12252.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12274.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12297.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12331.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12347.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12355.p1
 
 
 Maternal
 Simplex (trio)
 NA
 LINC01322
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01192
 
 sanders_11_ASD_discovery_cases-12370.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12385.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12396.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12420.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12423.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12494.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12524.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12539.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12541.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12614.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12621.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12626.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12637.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12650.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTND4P17,MTND4LP10,MTND3P7,MTCO3P38,MCUR1P2
 
 sanders_11_ASD_discovery_cases-12691.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12695.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12703.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12796.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 IFT80
 
 sanders_11_ASD_discovery_cases-12828.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12838.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12858.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12888.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-12941.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12997.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TOMM22P6
 
 sanders_11_ASD_discovery_cases-12998.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13015.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-13035.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-13048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13070.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-13082.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13097.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-13169.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sanders_11_ASD_discovery_cases-13322.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01322
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 
 
 sato_12_ASD_discovery_cases_2-family1caseIV-3
 
 Possibly maternal
 Unknown
 Multiplex (brother with Asperger)
 Unknown
 
 
 shen_10b_ASD_discovery_cases-caseIII:1
 
 Paternal
 Maternal
 Simplex (ASD), Multiplex (language delay)
 Not segregated
 0 genes
 
 soueid_16_ASD_discovery_cases-caseLAS15
 
 
 Paternal
 Simplex
 
 LINC01322
 
 soueid_16_ASD_discovery_cases-caseSAI31
 
 
 Maternal
 Simplex
 
 TOMM22P6,RPS6P4,LINC01192
 
 stamouli_18_ASD/NDD_discovery_cases-family53_Twin_2
 
 
 Unknown
 Simplex
 Not segregated (CNV also present in unaffected twin)
 RPS6P4,LINC01192
 
 tabet_12_ASD_discovery_cases-patient2
 
 
 Maternal
 Multiplex
 Unknown
 
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Unknown
 
 
 vaags_11_ASD_replication_cases_2-probandF4-003
 
 
 Unknown
 Simplex
 Unknown
 
 
 yin_16_ASD_discovery_cases-case153
 
 
 Unknown
 Unknown
 Unknown
 
 
 yin_16_ASD_discovery_cases-case154
 
 
 Unknown
 Unknown
 Unknown
 
 
 yin_16_ASD_discovery_cases-case155
 
 
 Unknown
 Unknown
 Unknown
 
 
 yin_16_ASD_discovery_cases-case156
 
 
 Unknown
 Unknown
 Unknown
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_controls-57305104494
 
 
  Unknown
 
 
  RPS6P4,LINC01192
 
kanduri_15_ASD_discovery_controls-control_split1516
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, BCHE(dist=967594),ZBBX(dist=426096)
 
kanduri_15_ASD_discovery_controls-control_split1593
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CT64(dist=637268),SI(dist=1032401)
 
kanduri_15_ASD_discovery_controls-control_split164
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, OTOL1(dist=908961),CT64(dist=739955)
 
kanduri_15_ASD_discovery_controls-control_split2103
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, OTOL1(dist=908961),CT64(dist=752556)
 
krumm_15_ASD_discovery_controls-control12794.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SI
 
krumm_15_ASD_discovery_controls-control13583.s1
  1M-Duov3
 
  Maternal
 
 
  SI
 
sanders_11_ASD_discovery_controls-11028.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SI
 
sanders_11_ASD_discovery_controls-11051.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPS6P4,LINC01192
 
sanders_11_ASD_discovery_controls-11094.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11101.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11101.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SERPINI2,WDR49
 
sanders_11_ASD_discovery_controls-11106.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CBX1P5
 
sanders_11_ASD_discovery_controls-11107.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11110.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11148.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11201.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11245.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PPM1L
 
sanders_11_ASD_discovery_controls-11250.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11289.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11345.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SI
 
sanders_11_ASD_discovery_controls-11367.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TOMM22P6
 
sanders_11_ASD_discovery_controls-11396.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11424.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CBX1P5
 
sanders_11_ASD_discovery_controls-11439.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11450.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CBX1P5
 
sanders_11_ASD_discovery_controls-11475.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11504.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11536.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SI
 
sanders_11_ASD_discovery_controls-11550.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11569.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11571.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11600.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11654.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11657.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11673.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11718.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11869.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CBX1P5
 
sanders_11_ASD_discovery_controls-11883.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11894.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11901.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11916.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01324
 
sanders_11_ASD_discovery_controls-11922.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11935.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-11940.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12056.s1
 
 
  Unknown
  Simplex (quad)
  NA
  BCHE
 
sanders_11_ASD_discovery_controls-12057.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12057.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12091.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CBX1P5
 
sanders_11_ASD_discovery_controls-12099.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12120.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12161.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12212.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12229.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12250.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12261.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12323.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12329.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12347.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12396.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12420.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12494.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12524.s1
 
 
  Both parents
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12541.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12574.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12597.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12621.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12631.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12637.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12650.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTND4P17,MTND4LP10,MTND3P7,MTCO3P38,MCUR1P2
 
sanders_11_ASD_discovery_controls-12681.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12691.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12723.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12786.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12794.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SI
 
sanders_11_ASD_discovery_controls-12796.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IFT80
 
sanders_11_ASD_discovery_controls-12838.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12858.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-12997.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TOMM22P6
 
sanders_11_ASD_discovery_controls-13035.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-13048.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13051.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-13070.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-13153.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13153.s1
 
 
  Paternal
  Simplex (quad)
  NA
  BCHE
 
sanders_11_ASD_discovery_controls-13169.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-13171.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01322
 
sanders_11_ASD_discovery_controls-13222.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01322
 
stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
 
 
  Unknown
  Simplex
 
  RPS6P4,LINC01192
 

No Animal Model Data Available
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