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12p13.31CNV Type: Deletion-Duplication


Largest CNV size: 219000 bp

Statistics Box:
Number of Reports: 27


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
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion-Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
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
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Duplication
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
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bremer_11_ASD_discovery_cases
 223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
 223
 25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
 
 71.3% Male
 160000
 0
 2
 2
 chilian_13_DD/ID_discovery_cases
 Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
 1
 Severe DD/ID, language impairment, behavioral abnormalities
 5 yrs.
 Male
 56625
 0
 1
 1
 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
 75766
 1
 0
 1
 coe_14_ASD/DD/ID_discovery_cases
 Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 29085
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 340000
 0
 23
 23
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 182967
 0
 1
 1
 egle_16_DD/ID_discovery_cases
 Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
 66
 All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
 N/A
 N/A
 30000
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 150996
 6
 2
 8
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 5000000
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 301854
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1041391
 1
 1
 2
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 81155
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 183039
 0
 1
 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
 108588
 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
 137223
 0
 1
 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
 68000
 1
 0
 1
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 219000
 2
 4
 6
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 132000
 0
 1
 1
 newbury_12_ASD/CAS_discovery_cases
 Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
 1
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
 14 yrs.
 Male
 103171
 1
 0
 1
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 132701
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 150.997
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 824448
 4
 14
 18
 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
 63108
 0
 3
 3
 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
 189347
 70
 19
 89
 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
 81865
 1
 0
 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
 122970
 2
 0
 2
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 94423
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 158362
 0
 6
 6

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 coe_14_ASD/DD/ID_discovery_controls
 Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 19584
 Control
 N/A
 N/A
 340000
 0
 1
 1
 egle_16_DD/ID_discovery_controls
 CNVs from the Database of Genomic Variants (DGV)
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 174266
 1
 3
 4
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 225126
 0
 1
 1
 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
 173995
 0
 1
 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
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 81155
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 156657
 1
 1
 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
 174730
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 219230
 0
 7
 7
 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)
 63108
 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.
 
 174164
 65
 7
 72
 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
 158362
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bremer_11_ASD_discovery_cases
  Swedish
 aCGH
  BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
 
 
 MLPA, FISH
 chilian_13_DD/ID_discovery_cases
  Germany
 aCGH
  Agilent Human Genome CGH Microarray 244A
 
 
 None
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 coe_14_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 egle_16_DD/ID_discovery_cases
  Lithuania
 aCGH
  Agilent 60K, Agilent 105K, or Agilent 1M
 ADM-2
 Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
 FISH or RT-PCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 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
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 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
 
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 newbury_12_ASD/CAS_discovery_cases
  European (Caucasian)
 aCGH
  Agilent 244K
 
 Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
 None
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sato_12_ASD_discovery_cases_2
  Canadian
 aCGH
  Agilent SurePrint G3 Human CGH 1x1M
 DNA Analytics, CBS/DNAcopy
 
 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
 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
  coe_14_ASD/DD/ID_discovery_controls
  N/A
  aCGH, solid phase hybridization
  Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
 
 
  None
  egle_16_DD/ID_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  None
  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
 
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  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
  bremer_11_ASD_discovery_cases-case22
 8
 F
 ASD
 Non-syndromic ASD, sporadic case
 IQ>70
 5436366
 5599011
  162646
 GRCh38
 Duplication
 Yes
  bremer_11_ASD_discovery_cases-case35
 17
 M
 ASD
 Syndromic ASD, broad neuropsychiatric phenotype familial case
 MR (IQ<70)
 5426637
 5599011
  172375
 GRCh38
 Duplication
 Yes
  chilian_13_DD/ID_discovery_cases-case1
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
 9484727
 9541352
  56626
 GRCh38
 Duplication
 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)
 9485301
 9561066
  75766
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case30
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case31
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case32
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case33
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case34
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case35
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case36
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case37
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case38
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case39
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case40
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case41
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case42
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case43
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case44
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case45
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case46
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case47
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case48
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case49
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case50
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case51
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case52
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 6360573
 6700573
  340001
 GRCh38
 Duplication
 No
  davis_09_ASD_discovery_cases-AU019705
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 7850883
 8033850
  182967
 Unknown
 Duplication
 No
  egle_16_DD/ID_discovery_cases-case17_1
 18 mos.
 M
 Developmental delay
 Megalencephaly
 Developmental delay
 6300599
 6333110
  32512
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case14308_4250
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9320561
 9362128
  41568
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3011_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7600699
 7642140
  41442
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3016_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7600699
 7648936
  48238
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3141_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7582535
 7646990
  64456
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5008_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9440944
 9572872
  131929
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5332_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9728503
 9792763
  64261
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5347_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9716675
 9867668
  150994
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5349_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 9728503
 9779474
  50972
 GRCh38
 Deletion
 No
  gannon_11_ASD/DD_discovery_cases-patient14
 
 
 Developmental delay
 Marked dysmorphism (Bilateral epicanthal folds, ptosis, high forehead, and down-slanted palpebral fissures)
 IQ<70
 NA
 NA
  5000000
 Unknown
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-9505103679
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 6266574
 6568428
  301855
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001935
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6098040
 6355855
  257816
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002076
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6728665
 7705620
  976956
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case12802.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12802. SRS score of 90.
 Full-scale IQ (FSIQ) score N/A.
 8456111
 8537266
  81156
 GRCh38
 Deletion
 No (not tested)
  levy_11_ASD_discovery_cases-12314.p1
 NA
 M
 ASD
 NA
 NA
 7402559
 7585597
  183039
 GRCh38
 Duplication
 No
  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
 9467109
 9575696
  108588
 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.
 9467109
 9575696
  108588
 GRCh38
 Deletion
 No
  li_18_ASD_discovery_cases-case6101
 N/A
 F
 ASD
 Diagnosis of ASD made according to DSM-IV
 
 7847989
 7985212
  137224
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown17
  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)
 
 7832893
 7900864
  67972
 GRCh38
 Deletion
 No
  morrow_08_ASD_discovery_cases-case1601
 NA
 
 ASD
 NA
 NA
 7916000
 7963000
  48000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case1602
 NA
 
 ASD
 NA
 NA
 7916000
 8022000
  107000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case1603
 NA
 
 ASD
 NA
 NA
 7918000
 7963000
  45000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case1604
 NA
 
 ASD
 NA
 NA
 7745000
 7963000
  219000
 Unknown
 Duplication
 No
  morrow_08_ASD_discovery_cases-case4501
 NA
 
 ASD
 NA
 NA
 7916000
 7963000
  47700
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case4504
 NA
 
 ASD
 NA
 NA
 7916000
 8035000
  119100
 Unknown
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam694Proband7926
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 9136450
 9268233
  131784
 GRCh38
 Duplication
 No
  newbury_12_ASD/CAS_discovery_cases-case1
 14 yrs.
 M
 PDD-NOS and CAS
 Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
 
 7832893
 7936064
  103172
 GRCh38
 Deletion
 No
  o'roak_12_ASD_discovery_cases-case11843.p1
 NA
 F
 ASD/Autism
 Case also identified with de novo LTN1 nonsense mutation and de novo SESN2 missense mutation. No additional clinical info available.
 High IQ. Non verbal IQ, 113
 7839088
 7971789
  132702
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5347_3
 NA
 M
 Autism
 Language delay, no epilepsy, no dysmorphic features
 Average IQ
 9716675
 9867668
  150994
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1659A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU074703; NDAR ID NDAR_INVJJ895UYV)
 
 6534831
 6537998
  3168
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case01HI1953A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU078505; NDAR ID NDAR_INVGY956VEE)
 
 6534831
 6537998
  3168
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case03HI2580A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
 
 8655413
 8875013
  219601
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case03HI2580A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
 
 6570674
 6600671
  29998
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2954A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1243301; NDAR ID N/A)
 
 7304332
 7327095
  22764
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3701A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1397313; NDAR ID NDAR_INVDY630JXA)
 
 9595272
 9827631
  232360
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case98HI0496B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU004803; NDAR ID NDAR_INVXH811VA5)
 
 7715181
 7746425
  31245
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case98HI0569A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU045005; NDAR ID NDAR_INVBY954EC1)
 
 7832720
 7933904
  101185
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 6941372
 7081304
  139933
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 6578844
 6602499
  23656
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 9158418
 9203953
  45536
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 6855753
 6922404
  66652
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0694B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
 
 8044758
 8869205
  824448
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 6940878
 6970280
  29403
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 6530919
 6537012
  6094
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1144B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
 
 6495097
 6523348
  28252
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1144B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
 
 6573072
 6602499
  29428
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1144B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
 
 9152218
 9756421
  604204
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case138154L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 7782057
 7795083
  13027
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case61171-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7323856
 7386963
  63108
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case71182
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 6573586
 6607948
  34363
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 8227371
 8244352
  16982
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11067.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 128; verbal IQ, 121
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11106.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 51
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11115.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11121.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11159.p1
 12.9
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11172.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11232.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11241.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11251.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
 6134450
 6141521
  7072
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11252.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11256.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
 6134450
 6141521
  7072
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11267.p1
 13.2
 F
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11294.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
 6134450
 6138398
  3949
 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
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11350.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11365.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11382.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
 6134450
 6141521
  7072
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11414.p1
 12.7
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 83; verbal IQ, 80
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11466.p1
 9.2
 M
 Aspergers
 NA
 Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11474.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11489.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
 6134450
 6137117
  2668
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 6134450
 6141521
  7072
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11511.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11544.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11545.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
 6134450
 6138398
  3949
 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
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11565.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11573.p1
 8.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11611.p1
 10.3
 F
 Autism
 NA
 Full-scale IQ, 32; non-verbal IQ, 34; verbal IQ, 27
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11638.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 76; verbal IQ, 30
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11641.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 82
 6134450
 6146259
  11810
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11644.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11707.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11720.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11731.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11740.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11800.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11806.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
 6655665
 6664435
  8771
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11841.p1
 10.4
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11860.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11894.p1
 5.4
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
 6134450
 6137117
  2668
 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
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11972.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11982.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
 6134450
 6141521
  7072
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12046.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12060.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12074.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
 9274270
 9419648
  145379
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12120.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12157.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 93
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12158.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
 8331643
 8389500
  57858
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12185.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
 6134450
 6141521
  7072
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12224.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12264.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12304.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 77
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12310.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12314.p1
 6.2
 M
 ASD
 NA
 Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
 7405820
 7595167
  189348
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12340.p1
 15.5
 F
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 19
 7737953
 7750120
  12168
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12347.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12355.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12358.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
 6134450
 6141521
  7072
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12362.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12417.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12440.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 8215098
 8244352
  29255
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12463.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 73
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12480.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
 6134450
 6138398
  3949
 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
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12540.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12581.p1
 12.4
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 8215098
 8244352
  29255
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12603.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
 6217842
 6218947
  1106
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12645.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 84; verbal IQ, 94
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12656.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12664.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12788.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12792.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12798.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12925.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
 8215098
 8244352
  29255
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 6134450
 6138398
  3949
 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
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13036.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13063.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 8215098
 8232751
  17654
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13080.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13174.p1
 10
 M
 Aspergers
 NA
 Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13218.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
 6134450
 6141521
  7072
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13367.p1
 9.7
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
 6134450
 6138398
  3949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13382.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ, 83
 6134450
 6138398
  3949
 GRCh38
 Deletion
 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).
 9484527
 9566391
  81865
 GRCh38
 Deletion
 No
  tabet_12_ASD_discovery_cases-patient1
 21 yrs.
 M
 Autism
 Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers 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.
 WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
 7847740
 7970710
  122971
 GRCh38
 Deletion
 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
 7847740
 7970710
  122971
 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)
 9481274
 9575696
  94423
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case428
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 7712421
 7725659
  13239
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case429
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 8225643
 8384004
  158362
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case430
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 8225643
 8384004
  158362
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case431
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 8225643
 8384004
  158362
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case432
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 8225643
 8384004
  158362
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case433
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 8225643
 8384004
  158362
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  coe_14_ASD/DD/ID_discovery_controls-control1
  N/A
  N/A
  Control
  N/A
  N/A
  6360573
  6700573
  340001
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB653693_1007874607
  N/A
  N/A
  Control
  No previous psychiatric history
 
  9205627
  9283850
  78224
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB805034_1007875356
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7496888
  7671154
  174267
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB874843_1007854362
  N/A
  N/A
  Control
  No previous psychiatric history
 
  8636853
  8672462
  35610
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5469489
  5519121
  49633
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_231
  NA
  NA
  Control
  NA
  NA
  9329575
  9554701
  225127
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-52705104329
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  9380706
  9554701
  173996
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12802.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12802. SRS score of 35.
 
  8456111
  8537266
  81156
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11888.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  8456111
  8612768
  156658
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12340.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  7737428
  7747385
  9958
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11888.s1
  NA
  M
  Control
  NA
  NA
  8449376
  8624105
  174730
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C27734A
  N/A
  F
  Control
  NIMH Control (NIMH ID 28812)
 
  7832720
  7933904
  101185
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  7357402
  7501464
  144063
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  8655784
  8875013
  219230
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  9157765
  9208343
  50579
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  6064244
  6123198
  58955
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  6581289
  6679185
  97897
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C45836
  N/A
  M
  Control
  NIMH Control (NIMH ID 26071)
 
  6536492
  6541644
  5153
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11012.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11067.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11106.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11115.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11121.s1
  16.2
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11124.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11172.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11178.s1
  5.1
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11190.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11256.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11267.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  6129313
  6141521
  12209
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11284.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11346.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11355.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11365.s1
  13.1
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11432.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11435.s1
  23.3
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11458.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11488.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11545.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11556.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  5550209
  5552305
  2097
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  9661271
  9664598
  3328
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11592.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  7711716
  7720815
  9100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11638.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11645.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11659.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  8204911
  8227371
  22461
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11731.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  8215098
  8232751
  17654
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11740.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  8215098
  8232751
  17654
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11766.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  8215098
  8232751
  17654
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11843.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11855.s1
  15.9
  F
  Control (matched sibling)
  NA
  NA
  6655665
  6664435
  8771
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11860.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11863.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11888.s1
  9.6
  M
  Control (matched sibling)
  NA
  NA
  8447767
  8621931
  174165
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11935.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11979.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11982.s1
  5.1
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6135483
  1034
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12076.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12078.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12118.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12120.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12162.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12185.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12201.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  8215098
  8232751
  17654
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12223.s1
  10.9
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12335.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12340.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  7737953
  7750120
  12168
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12358.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12372.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12430.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12440.s1
  5.1
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12447.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12595.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12613.s1
  12.6
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12645.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12656.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12664.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  8651541
  8653485
  1945
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12786.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12792.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12798.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12829.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12901.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12938.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6141521
  7072
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12944.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13036.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13080.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13174.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13266.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  6134450
  6138398
  3949
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bremer_11_ASD_discovery_cases-case22
 MLPA, FISH
 
 Unknown
 NA
 NA
 NTF3,ANO2
 
 bremer_11_ASD_discovery_cases-case35
 MLPA, FISH
 
 Paternal
 NA
 NA
 NTF3,ANO2
 
 chilian_13_DD/ID_discovery_cases-case1
 
 
 Unknown
 Possibly simplex (no info on 1st child)
 Unknown
 
 
 chung_11_ASD_discovery_cases-proband
 
 
 Paternal
 Simplex
 NA
 
 
 coe_14_ASD/DD/ID_discovery_cases-case30
 
 
 De novo
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case31
 
 
 De novo
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case32
 
 
 De novo
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case33
 
 
 Inherited
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case34
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case35
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case36
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case37
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case38
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case39
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case40
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case41
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case42
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case43
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case44
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case45
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case46
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case47
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case48
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case49
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case50
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case51
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 coe_14_ASD/DD/ID_discovery_cases-case52
 
 
 Unknown
 Unknown
 
 SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
 davis_09_ASD_discovery_cases-AU019705
 
 
 Unknown
 Unknown
 Unknown
 SCL2A14, SLC2A3
 
 egle_16_DD/ID_discovery_cases-case17_1
 FISH or RT-PCR
 
 Paternal
 
 
 PLEKHG6,TNFRSF1A
 
 engchuan_15_ASD_discovery_cases-case14308_4250
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3011_3
 
 
 Unknown
 
 
 NIFKP3
 
 engchuan_15_ASD_discovery_cases-case3016_3
 
 
 Unknown
 
 
 NIFKP3
 
 engchuan_15_ASD_discovery_cases-case3141_3
 
 
 Unknown
 
 
 NIFKP3
 
 engchuan_15_ASD_discovery_cases-case5008_3
 
 
 Unknown
 
 
 DDX12P
 
 engchuan_15_ASD_discovery_cases-case5332_3
 
 
 Unknown
 
 
 CD69,CLECL1
 
 engchuan_15_ASD_discovery_cases-case5347_3
 
 
 Unknown
 
 
 CD69,CLECL1,CLEC2B,KLRF1
 
 engchuan_15_ASD_discovery_cases-case5349_3
 
 
 Unknown
 
 
 CD69,CLECL1
 
 gannon_11_ASD/DD_discovery_cases-patient14
 
 
 Unknown
 Unknown
 
 NA
 
 girirajan_13b_ASD_discovery_cases-9505103679
 
 
 Unknown
 Unknown
 Unknown
 ATP5MFP5,RN7SL391P,SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,PLEKHG6,TNFRSF1A,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,IFFO1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001935
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ATP5MFP5,RN7SL391P,CD9,PLEKHG6,TNFRSF1A,SCNN1A,VWF
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002076
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 COPS7A,LAG3,RN7SL380P,GPR162,GNB3,TPI1,DSTNP2,C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,RNU6-485P,GAPDHP31,NIFKP3,GDF3,MLF2,PTMS,P3H3,CDCA3,USP5,SPSB2,RPL13P5,LRRC23,ENO2,ATN1,EMG1,LPCAT3,C1S,C1RL,C1RL-AS1,RBP5,CLSTN3,ACSM4,APOBEC1,CD4,PTPN6,PEX5,CD163L1,CD163
 
 krumm_13_ASD_discovery_cases-case12802.p1
 
 
 Maternal
 Simplex
 Not segregated
 RNU6-275P,SUPT4H1P2,CLEC6A,CLEC4E,CLEC4D
 
 levy_11_ASD_discovery_cases-12314.p1
 
 
 Maternal
 Simplex
 Segregated
 GAPDHP31,CD163L1,CD163
 
 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
 NANOGP1,SLC2A3,SLC2A14
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown17
 
 
 Maternal
 Unknown
 Unknown
 NANOGP1,SLC2A14
 
 morrow_08_ASD_discovery_cases-case1601
 
 
 Paternal
 NA
 NA
 SLC2A14, SLC2A3
 
 morrow_08_ASD_discovery_cases-case1602
 
 
 Paternal
 NA
 NA
 SLC2A14, SLC2A3
 
 morrow_08_ASD_discovery_cases-case1603
 
 
 Paternal
 NA
 NA
 SLC2A3
 
 morrow_08_ASD_discovery_cases-case1604
 
 
 Paternal
 NA
 NA
 SLC2A14, SLC2A3, CLEC4C, DPPA3
 
 morrow_08_ASD_discovery_cases-case4501
 
 
 Maternal
 Multiplex
 NA
 0 genes
 
 morrow_08_ASD_discovery_cases-case4504
 
 
 Maternal
 Multiplex
 NA
 SLC2A14/3
 
 nava_13_ASD_discovery_cases-Fam694Proband7926
 
 
 Maternal (mother with seizures)
 Simplex
 Unknown
 TPT1P12,MIR1244-3,PTMAP4,A2MP1,LINC00987,PZP
 
 newbury_12_ASD/CAS_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown (common in DGV)
 NANOGP1,SLC2A3,SLC2A14
 
 o'roak_12_ASD_discovery_cases-case11843.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 NANOGP1,SLC2A3,SLC2A14
 
 pinto_10_ASD_discovery_cases-case5347_3
 qPCR-Paternal
 
 paternal
 Simplex
 NA
 CD69,CLECL1,CLEC2B,KLRF1
 
 poultney_13_ASD_discovery_cases-case00HI1659A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 GAPDH
 
 poultney_13_ASD_discovery_cases-case01HI1953A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 GAPDH
 
 poultney_13_ASD_discovery_cases-case03HI2580A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPSAP51,A2ML1-AS2,A2ML1,MFAP5,RIMKLB,A2ML1-AS1
 
 poultney_13_ASD_discovery_cases-case03HI2580A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SCARNA11,CHD4
 
 poultney_13_ASD_discovery_cases-case04HI2954A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ACSM4
 
 poultney_13_ASD_discovery_cases-case05HI3701A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU6-700P,GOT2P3,LINC02390,CD69,KLRB1,CLECL1,CLEC2D,KLRF1
 
 poultney_13_ASD_discovery_cases-case98HI0496B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 DPPA3,CLEC4C
 
 poultney_13_ASD_discovery_cases-case98HI0569A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 NANOGP1,SLC2A3,SLC2A14
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,ATN1,EMG1,LPCAT3,C1S,PTPN6
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SCARNA11,CHD4
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PZP
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TPI1,DSTNP2,USP5,SPSB2,RPL13P5,LRRC23,ENO2
 
 poultney_13_ASD_discovery_cases-case99HI0694B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 POU5F1P3,GCSHP4,ALG1L10P,RPS3AP43,OR7E140P,OR7E148P,RNU6-275P,SUPT4H1P2,AICDA,RPSAP51,A2ML1-AS2,FOXJ2,C3AR1,NECAP1,ZNF705A,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449,OR7E149P,CLEC6A,CLEC4E,HADHAP2,A2ML1,CLEC4A,ENPP7P5,CLEC4D,MFAP5,RIMKLB,A2ML1-AS1,LINC00937
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,ATN1,PTPN6
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 NCAPD2,GAPDH
 
 poultney_13_ASD_discovery_cases-case99HI1144B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SCARNA10,NCAPD2
 
 poultney_13_ASD_discovery_cases-case99HI1144B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SCARNA11,CHD4
 
 poultney_13_ASD_discovery_cases-case99HI1144B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TPT1P12,MIR1244-3,PTMAP4,RNU6-700P,GOT2P3,LINC02390,CD69,A2MP1,LINC00987,LINC02367,KLRB1,CLECL1,PZP,CLEC2D,DDX12P
 
 prasad_12_ASD_discovery_cases-case138154L
 
 
 Unknown
 Unknown
 Unknown
 CLEC4C
 
 prasad_12_ASD_discovery_cases-case61171-L
 
 
 Unknown
 Unknown
 Unknown
 ACSM4
 
 prasad_12_ASD_discovery_cases-case71182
 
 
 Unknown
 Unknown
 Unknown
 CHD4,LPAR5
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 ALG1L10P,FAM90A1,FAM86FP,LINC02449
 
 sanders_11_ASD_discovery_cases-11067.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11106.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11115.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-11121.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11159.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11172.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11232.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11241.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11251.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11252.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-11256.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11267.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11294.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11345.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11350.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11365.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11382.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11414.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11466.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11474.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11489.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11511.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11544.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11545.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-11565.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11573.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11611.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11638.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11641.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11644.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-11707.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-11720.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-11731.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-11740.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11800.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11806.p1
 
 
 Unknown
 Simplex (trio)
 NA
 ING4
 
 sanders_11_ASD_discovery_cases-11841.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11860.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11894.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11972.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11982.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12060.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12074.p1
 
 
 Maternal
 Simplex (trio)
 NA
 A2MP1,LINC02367,DDX12P
 
 sanders_11_ASD_discovery_cases-12120.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12157.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12158.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RPS3AP43,LINC00937
 
 sanders_11_ASD_discovery_cases-12185.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12224.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12264.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12304.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12310.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12314.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GAPDHP31,CD163L1,CD163
 
 sanders_11_ASD_discovery_cases-12340.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CLEC4C
 
 sanders_11_ASD_discovery_cases-12347.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-12355.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-12358.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12362.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12417.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12440.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449
 
 sanders_11_ASD_discovery_cases-12463.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12480.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12524.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12540.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-12581.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449
 
 sanders_11_ASD_discovery_cases-12603.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CD9
 
 sanders_11_ASD_discovery_cases-12645.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12656.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12664.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12788.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12792.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12798.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12925.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449
 
 sanders_11_ASD_discovery_cases-12944.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12997.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13036.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13063.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13080.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13174.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13218.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13367.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13382.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sato_12_ASD_discovery_cases_2-family1caseIV-3
 
 Possibly maternal
 Unknown
 Multiplex (brother with Asperger)
 Unknown
 
 
 tabet_12_ASD_discovery_cases-patient1
 
 
 Paternal
 Multiplex
 Unknown
 NANOGP1,SLC2A3,SLC2A14
 
 tabet_12_ASD_discovery_cases-patient2
 
 
 Paternal
 Multiplex
 Unknown
 NANOGP1,SLC2A3,SLC2A14
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 
 
 yin_16_ASD_discovery_cases-case428
 
 
 Unknown
 Unknown
 Unknown
 DPPA3
 
 yin_16_ASD_discovery_cases-case429
 
 
 Unknown
 Unknown
 Unknown
 ALG1L10P,RPS3AP43,FAM90A1,FAM86FP,LINC02449,ENPP7P5,LINC00937
 
 yin_16_ASD_discovery_cases-case430
 
 
 Unknown
 Unknown
 Unknown
 ALG1L10P,RPS3AP43,FAM90A1,FAM86FP,LINC02449,ENPP7P5,LINC00937
 
 yin_16_ASD_discovery_cases-case431
 
 
 Unknown
 Unknown
 Unknown
 ALG1L10P,RPS3AP43,FAM90A1,FAM86FP,LINC02449,ENPP7P5,LINC00937
 
 yin_16_ASD_discovery_cases-case432
 
 
 Unknown
 Unknown
 Unknown
 ALG1L10P,RPS3AP43,FAM90A1,FAM86FP,LINC02449,ENPP7P5,LINC00937
 
 yin_16_ASD_discovery_cases-case433
 
 
 Unknown
 Unknown
 Unknown
 ALG1L10P,RPS3AP43,FAM90A1,FAM86FP,LINC02449,ENPP7P5,LINC00937
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
coe_14_ASD/DD/ID_discovery_controls-control1
 
 
  Unknown
 
 
  SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,IFFO1,ZNF384
 
engchuan_15_ASD_discovery_controls-controlB653693_1007874607
 
 
  Unknown
 
 
  MIR1244-3,PTMAP4,A2MP1,LINC00987,PZP
 
engchuan_15_ASD_discovery_controls-controlB805034_1007875356
 
 
  Unknown
 
 
  GAPDHP31,NIFKP3,APOBEC1,CD163
 
engchuan_15_ASD_discovery_controls-controlB874843_1007854362
 
 
  Unknown
 
 
  HADHAP2,MFAP5
 
engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
 
 
  Unknown
 
 
  NTF3
 
girirajan_11_ASD_discovery_controls-NIMH_231
 
 
  Unknown
 
 
  LINC02367,DDX12P
 
girirajan_13b_ASD_discovery_controls-52705104329
 
 
  Unknown
 
 
  LINC02367,DDX12P
 
krumm_13_ASD_discovery_controls-control12802.s1
 
 
  Maternal
  Simplex
 
  RNU6-275P,SUPT4H1P2,CLEC6A,CLEC4E,CLEC4D
 
krumm_15_ASD_discovery_controls-control11888.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RNU6-275P,SUPT4H1P2,AICDA,CLEC6A,CLEC4E,CLEC4D
 
krumm_15_ASD_discovery_controls-control12340.s1
  Illumina 1MDuo
 
  Maternal
 
 
  CLEC4C
 
levy_11_ASD_discovery_controls-11888.s1
 
 
  Maternal
  Simplex
  NA
  RNU6-275P,SUPT4H1P2,AICDA,CLEC6A,CLEC4E,CLEC4D
 
poultney_13_ASD_discovery_controls-control04C27734A
 
 
  Unknown
 
 
  NANOGP1,SLC2A3,SLC2A14
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  CD163L1,CD163
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  RPSAP51,A2ML1-AS2,A2ML1,MFAP5,RIMKLB,A2ML1-AS1
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  PZP
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  RN7SL69P,VWF
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  SCARNA11,ACRBP,CHD4,LPAR5,ING4,ZNF384
 
poultney_13_ASD_discovery_controls-control05C45836
 
 
  Unknown
 
 
  GAPDH,IFFO1
 
sanders_11_ASD_discovery_controls-11012.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11067.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11106.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11115.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11121.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11124.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11172.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11178.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11190.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11256.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11267.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11284.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11346.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11355.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11365.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11432.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11435.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11458.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11488.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11545.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11556.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ANO2
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11592.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DPPA3
 
sanders_11_ASD_discovery_controls-11638.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11645.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11659.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FAM66C,DEFB109F,FAM90A1
 
sanders_11_ASD_discovery_controls-11731.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
sanders_11_ASD_discovery_controls-11740.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
sanders_11_ASD_discovery_controls-11766.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
sanders_11_ASD_discovery_controls-11843.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11855.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ING4
 
sanders_11_ASD_discovery_controls-11860.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11863.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11888.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-275P,SUPT4H1P2,AICDA,CLEC6A,CLEC4E,CLEC4D
 
sanders_11_ASD_discovery_controls-11935.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11979.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11982.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12076.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12078.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12118.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12120.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12162.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12185.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12201.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ALG1L10P,FAM66C,DEFB109F,FAM90A1,FAM86FP
 
sanders_11_ASD_discovery_controls-12223.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12335.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12340.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CLEC4C
 
sanders_11_ASD_discovery_controls-12358.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12372.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12430.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12440.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12447.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12595.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12613.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12645.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12656.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12664.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MFAP5
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12786.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12792.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12798.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12829.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12901.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12938.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12944.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13036.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13080.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13174.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13266.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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