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11q22.3CNV Type: Deletion-Duplication


Largest CNV size: 921000 bp

Statistics Box:
Number of Reports: 26



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion-Duplication
Functional impact of global rare copy number variation in 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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
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
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 6208
 1
 0
 1
 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
 1229911
 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
 457295
 2
 7
 9
 fan_18_DD/ID_discovery_cases
 Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
 3
 All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
 Range, 4-9 yrs.
 33.33% Male
 263219
 0
 1
 1
 fry_16_DD/ID/EP/ASD_discovery_cases
 Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
 80
 All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
 Range, <1 yr.-60 yrs.
 45.0% Male
 152000
 1
 0
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 401839
 1
 1
 2
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 1240180
 0
 1
 1
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 0
 1
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 851000
 0
 5
 5
 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
 739241
 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
 2877369
 4
 1
 5
 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
 7459
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 254538
 2
 5
 7
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 1300000
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 304043
 0
 1
 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
 
 
 90063
 0
 3
 3
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 229689
 0
 1
 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)
 81521
 0
 4
 4
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 132239
 2
 3
 5
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 393031
 1
 1
 2
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 79982
 0
 2
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 302665
 34
 38
 72
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 113000
 1
 0
 1
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 921000
 1
 3
 4
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 267261
 0
 1
 1
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 77354
 0
 1
 1
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 53000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 355794
 4
 5
 9
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 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
 7459
 0
 3
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 254538
 1
 3
 4
 leppa_16_ASD_discovery_controls
 Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 572
 Control
 N/A
 N/A
 1300000
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 304043
 0
 1
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 184677
 0
 1
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 0
 0
 0
 0
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 132239
 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.
 
 302665
 21
 26
 47
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 0
 0
 0
 0
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 267261
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fan_18_DD/ID_discovery_cases
  Chinese
 Array SNP, solid phase hybridization
  Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
 
 
 None
 fry_16_DD/ID/EP/ASD_discovery_cases
  78 White British, 1 South Asian, 1 Mixed White/South Asian
 aCGH, solid phase hybridization
  Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
 PennCNV
 Illumina BlueFuse Multi v3.1
 Solid phase hybridization (Illumina)
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 girirajan_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
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 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
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  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
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  leppa_16_ASD_discovery_controls
  N/A
  Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
  PennCNV, QuantiSNP, GNOSIS
  GenomeStudio, CNVision
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
  Affymetrix ChAS
  None
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_cases-caseSSC01124
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 105719123
 105725330
  6208
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU027505
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: micropthalmia
 
 103518670
 104748581
  1229911
 Unknown
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1395_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 105288443
 105378059
  89617
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14344_4580
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 107024306
 107183916
  159611
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14383_1300
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 107854571
 107999773
  145203
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16052_1571163001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 104462923
 104690061
  227139
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3199_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 107885825
 108078734
  192910
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4046_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 106429554
 106464550
  34997
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4219_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 107736586
 108193880
  457295
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4457_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 107685211
 108002680
  317470
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8418_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 107780369
 107999773
  219405
 GRCh38
 Duplication
 No
  fan_18_DD/ID_discovery_cases-subject2
 9 yrs.
 F
 Developmental delay/intellectual disability
 Developmental milestones: extremely severe delays in gross motor skill development, fine motor skill development, language development, social communication development, and adaptivity. Language and communication evaluation: unable to make sentences, language ability equivalent to 18 months. Behavioral/psychiatric evaluation: no autistic behaviors reported. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: overgrowth (height and weight both > 97th %ile), macrocephaly (head circumference +2 SD ~ +3 SD).
 Extremely severe intellectual disability
 106384616
 106647835
  263220
 GRCh38
 Duplication
 No
  fry_16_DD/ID/EP/ASD_discovery_cases-caseR101
 32 yrs.
 M
 Intellectual disability and epilepsy
 Clinical features: intellectual disability, seizures. Age of seizure onset: <16 years. Epilepsy syndrome: unknown. Seizure types: unknown.
 Intellectual disability
 109302300
 109454573
  152274
 GRCh38
 Deletion
 Yes
  gai_11_ASD_discovery_cases-AU1391302
 
 
 Autism
 
 
 102457378
 102701553
  244176
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1840305
 
 
 Autism
 
 
 103636208
 104038046
  401839
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU027505
 
 
 Autism
 
 
 103544199
 104784378
  1240180
 Unknown
 Duplication
 No
  gannon_11_ASD/DD_discovery_cases-patientL
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-11044.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 108357829
 108381795
  23967
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-11433.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 108357829
 108381795
  23967
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-11542.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 107674064
 107974064
  300001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12211.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 108357829
 108381795
  23967
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-14046.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 104384062
 105234063
  850002
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-7908109348
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 104302574
 105041816
  739243
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001736
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 104510196
 105323725
  813530
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001786
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 104142626
 107019997
  2877372
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002252
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 103328808
 103570897
  242090
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003782
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 106890007
 107286088
  396082
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 105022700
 106359486
  1336787
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11667.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11667. SRS score of 78.
 Full-scale IQ (FSIQ) score of 53.
 108385919
 108393378
  7460
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11131.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 104944752
 104955001
  10250
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11199.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 103455185
 103479253
  24069
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11368.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104968516
 104997492
  28977
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11542.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 107707834
 107962372
  254539
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11667.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 108385897
 108393380
  7484
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12462.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 107525440
 107553207
  27768
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14046.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104944752
 105139078
  194327
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU027505
 N/A
 M
 ASD
 
 
 104168272
 105422273
  1254002
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1899301
 N/A
 M
 ASD
 
 
 103040271
 103833272
  793002
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11542.p1
 NA
 F
 ASD
 NA
 NA
 107670705
 107974747
  304043
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case1395_301
 NA
 M
 ASD
 NA
 NA
 105288443
 105378059
  89617
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case8418_201
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 107770085
 107999773
  229689
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case04HI3552A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1391302; NDAR ID NDAR_INVLZ966ZYW)
 
 103082746
 103120581
  37836
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3930A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0928301; NDAR ID NDAR_INVEK523YFH)
 
 105045289
 105101416
  56128
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0135B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU002205; NDAR ID NDAR_INVLZ922XXP)
 
 108088525
 108170045
  81521
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-caseHI4537
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1412301; NDAR ID NDAR_INVMC166PX6)
 
 105099361
 105101416
  2056
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case46736
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 102681409
 102695801
  14393
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47836
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 108508848
 108534506
  25659
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case55449
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 104741778
 104785023
  43246
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case64377L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 108177627
 108211090
  33464
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case77114
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 103485874
 103618112
  132239
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_379
 2 yrs.
 F
 Developmental delay
 Additional clinical information N/A
 Mild global developmental delay
 104933551
 105241509
  307959
 GRCh38
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_486
 9 yrs.
 F
 ASD and intellectual disability
 ASD, visual deficit with congenital nystagmus
 Intellectual disability
 108893360
 109286390
  393031
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-304
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 107885825
 107954038
  68214
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-246
 N/A
 N/A
 CBLH-PMG
 Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
 
 108832570
 108912551
  79982
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11006.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11041.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
 105046918
 105059949
  13032
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11086.p1
 7.4
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 105046918
 105059949
  13032
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 107782355
 107799502
  17148
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11131.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
 104936072
 104967488
  31417
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11148.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
 106523477
 106528755
  5279
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11187.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 115; verbal IQ, 108
 107782355
 107799502
  17148
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11188.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11199.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 94; verbal IQ, 81
 103448100
 103497678
  49579
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11207.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 91; verbal IQ, 70
 107782355
 107799502
  17148
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11214.p1
 15.5
 M
 ASD
 NA
 Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
 107782355
 107799502
  17148
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11301.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
 107782355
 107799502
  17148
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11433.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
 108364109
 108373387
  9279
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11444.p1
 16.3
 F
 Aspergers
 NA
 Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
 107782355
 107799502
  17148
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11458.p1
 16.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
 107782355
 107799502
  17148
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11464.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
 106748865
 106749856
  992
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11494.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
 106527293
 106528755
  1463
 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
 107782355
 107799502
  17148
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11506.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
 109049075
 109051778
  2704
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11542.p1
 12.5
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
 107670211
 107972876
  302666
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11543.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
 106527293
 106528755
  1463
 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
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11563.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11733.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 104109613
 104112134
  2522
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11810.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11812.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
 109049075
 109051778
  2704
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11824.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
 105194698
 105368714
  174017
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11824.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11883.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11895.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 79
 109049075
 109051778
  2704
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11919.p1
 4.1
 M
 ASD
 NA
 Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11933.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
 107468429
 107476655
  8227
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11998.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111
 104887308
 104892159
  4852
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12010.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12025.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 96; verbal IQ, 69
 108801784
 108832570
  30787
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12041.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12046.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
 107785223
 107800900
  15678
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12053.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 90; verbal IQ, 71
 106527293
 106528755
  1463
 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
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12173.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
 107785223
 107800900
  15678
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12211.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82
 108364109
 108373387
  9279
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12238.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12257.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12300.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 102
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12320.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
 107785223
 107800900
  15678
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12334.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 106748865
 106749856
  992
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12337.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
 103590731
 103757488
  166758
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12354.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12380.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 80
 107785223
 107800900
  15678
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12381.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
 107785223
 107800900
  15678
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12418.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
 107785223
 107800900
  15678
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12476.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12476.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12484.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 107; verbal IQ, 83
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12568.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
 109049075
 109051778
  2704
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12682.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
 107785223
 107800900
  15678
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12708.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
 107785223
 107800900
  15678
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12717.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 86
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12780.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
 109156698
 109226703
  70006
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12788.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12892.p1
 6.3
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12933.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 41; verbal IQ, 44
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12979.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
 104109613
 104112134
  2522
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13007.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13045.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
 106527293
 106528755
  1463
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13050.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 93; verbal IQ, 108
 109049075
 109051778
  2704
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13089.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13097.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
 107468429
 107476655
  8227
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 107782355
 107800900
  18546
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 107468429
 107476655
  8227
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13324.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
 107785223
 107800900
  15678
 GRCh38
 Duplication
 No
  soueid_16_ASD_discovery_cases-caseBAK38
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 109197222
 109310596
  113375
 GRCh38
 Deletion
 No
  szatmari_07_ASD_discovery_cases-NAAR020-D6-HI1175
 NA
 
 ASD
 NA
 NA
 104552062
 105357063
  805002
 GRCh38
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR026-G7-3105.004
 NA
 
 ASD
 NA
 NA
 103629062
 103669062
  40001
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR063-B2-HI1189
 NA
 
 ASD
 NA
 NA
 104552062
 105473063
  921002
 GRCh38
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR063-B3-HI1190
 NA
 
 ASD
 NA
 NA
 104552062
 105357063
  805002
 GRCh38
 Duplication
 Yes
  walker_13_ASD_discovery_cases-case2-1075-003
 N/A
 M
 ASD
 N/A
 N/A
 103067322
 103334583
  267262
 GRCh38
 Duplication
 No
  wenger_16_ASD_discovery_cases-case39
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 108086044
 108163397
  77354
 GRCh38
 Duplication
 No
  xu_16_ASD/DD/ID_discovery_cases-case27
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
 
 103443214
 103496433
  53220
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036019040_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  107648102
  107991942
  343841
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB109643_1007853953
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104641709
  104761994
  120286
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB331842_1007873285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  108227415
  108260498
  33084
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB467855_1007853980
  N/A
  N/A
  Control
  No previous psychiatric history
 
  107757126
  107799502
  42377
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB490162_1007842249
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104495361
  104552280
  56920
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB868642_1007874852
  N/A
  N/A
  Control
  No previous psychiatric history
 
  107683541
  107785223
  101683
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900219_900219
  N/A
  N/A
  Control
  No previous psychiatric history
 
  104363348
  104587028
  223681
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900874_900874
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103511215
  103558916
  47702
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
  N/A
  N/A
  Control
  No previous psychiatric history
 
  105288443
  105644237
  355795
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11667.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11667. SRS score of 45.
 
  108385919
  108393378
  7460
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control11773.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11773. SRS score of 42.
 
  108385919
  108393378
  7460
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13808.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13808. SRS score of 44.
 
  108385919
  108393378
  7460
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11199.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  103455185
  103479253
  24069
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11542.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  107707834
  107962372
  254539
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11667.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  108383020
  108393380
  10361
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11773.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  108385897
  108393380
  7484
  GRCh38
  Duplication
  Yes
  leppa_16_ASD_discovery_controls-AU027503
  N/A
  F
  Control
  Unaffected sibling
 
  104168272
  105422273
  1254002
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-11542.s1
  NA
  F
  Control
  NA
  NA
  107670705
  107974747
  304043
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C28240
 
 
  Control
 
 
  108138536
  108323212
  184677
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11008.s1
  26.3
  M
  Control (matched sibling)
  NA
  NA
  107782355
  107799502
  17148
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11041.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  105046918
  105059949
  13032
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11101.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  105044836
  105065283
  20448
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11199.s1
  13.6
  M
  Control (matched sibling)
  NA
  NA
  103448100
  103509763
  61664
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11266.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  106527293
  106528755
  1463
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11301.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  107782355
  107799502
  17148
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11307.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  107785223
  107799502
  14280
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11312.s1
  12.6
  M
  Control (matched sibling)
  NA
  NA
  103480247
  103511215
  30969
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11329.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  107782355
  107799502
  17148
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11439.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  107785223
  107800900
  15678
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11444.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  107785223
  107799502
  14280
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11458.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  107785223
  107799502
  14280
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11499.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  107782355
  107799502
  17148
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11542.s1
  14.6
  F
  Control (matched sibling)
  NA
  NA
  107670211
  107972876
  302666
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8.9
  M
  Control (matched sibling)
  NA
  NA
  106527293
  106528755
  1463
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11564.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  107468429
  107476655
  8227
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11587.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  107782355
  107799502
  17148
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11597.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  104495361
  104501590
  6230
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11666.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  109049075
  109051778
  2704
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11773.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  108386132
  108391363
  5232
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11894.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  108386132
  108391363
  5232
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11933.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  107468429
  107476655
  8227
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12006.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  104887308
  104892159
  4852
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12053.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  107782355
  107800900
  18546
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12061.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  104887308
  104890544
  3237
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12086.s1
  25.2
  M
  Control (matched sibling)
  NA
  NA
  107785223
  107800900
  15678
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12154.s1
  9.1
  F
  Control (matched sibling)
  NA
  NA
  104495361
  104501590
  6230
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12173.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  107782355
  107800900
  18546
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12211.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  108364109
  108373387
  9279
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12220.s1
  16.1
  M
  Control (matched sibling)
  NA
  NA
  107782355
  107793943
  11589
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12223.s1
  10.9
  F
  Control (matched sibling)
  NA
  NA
  109049075
  109051778
  2704
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12231.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  107773570
  107800900
  27331
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12240.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  108458225
  108463594
  5370
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12300.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  106527293
  106528755
  1463
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12346.s1
  15
  M
  Control (matched sibling)
  NA
  NA
  106527293
  106528755
  1463
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12383.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  106527293
  106528755
  1463
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12440.s1
  5.1
  F
  Control (matched sibling)
  NA
  NA
  106527293
  106528755
  1463
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12457.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  107785223
  107800900
  15678
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12568.s1
  15.7
  F
  Control (matched sibling)
  NA
  NA
  109049075
  109051778
  2704
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12621.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  107782355
  107800900
  18546
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12674.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  107785223
  107800900
  15678
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12853.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  107780369
  107800900
  20532
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  106748865
  106749856
  992
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12933.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  107780369
  107800900
  20532
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13007.s1
  19.8
  F
  Control (matched sibling)
  NA
  NA
  107782355
  107800900
  18546
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13097.s1
  12.4
  F
  Control (matched sibling)
  NA
  NA
  107468429
  107476655
  8227
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13159.s1
  13.6
  M
  Control (matched sibling)
  NA
  NA
  107782355
  107800900
  18546
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-caseSSC01124
 No validation step reported
 
 Maternal
 
 
 GRIA4
 
 davis_09_ASD_discovery_cases-AU027505
 
 
 Unknown
 Unknown
 Unknown
 PDGFD, CASP4&1, COP1, ICEBERG
 
 engchuan_15_ASD_discovery_cases-case1395_301
 
 
 Unknown
 
 
 CARD18
 
 engchuan_15_ASD_discovery_cases-case14344_4580
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14383_1300
 
 
 Unknown
 
 
 RAB39A,SLC35F2
 
 engchuan_15_ASD_discovery_cases-case16052_1571163001
 
 
 Unknown
 
 
 LINC02552
 
 engchuan_15_ASD_discovery_cases-case3199_3
 
 
 Unknown
 
 
 RAB39A,CUL5,SLC35F2
 
 engchuan_15_ASD_discovery_cases-case4046_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4219_1
 
 
 Unknown
 
 
 RAB39A,CUL5,NPAT,SLC35F2,ACAT1
 
 engchuan_15_ASD_discovery_cases-case4457_1
 
 
 Unknown
 
 
 SLN,RAB39A,SLC35F2
 
 engchuan_15_ASD_discovery_cases-case8418_201
 
 
 Unknown
 
 
 RAB39A,SLC35F2
 
 fan_18_DD/ID_discovery_cases-subject2
 
 
 Unknown
 
 Unknown
 
 
 fry_16_DD/ID/EP/ASD_discovery_cases-caseR101
 Solid phase hybridization (Illumina)
 
 Paternal
 
 
 C11orf87
 
 gai_11_ASD_discovery_cases-AU1391302
 
 
 Inherited
 
 
 DCUN1D5, DYNC2H1
 
 gai_11_ASD_discovery_cases-AU1840305
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU027505
 
 
 Inherited
 
 
 CASP12, CASP4, CASP5, CASP1, CARD16, CARD17, CARD18
 
 gannon_11_ASD/DD_discovery_cases-patientL
 
 
 Unknown
 Unknown
 
 NA
 
 girirajan_13a_ASD_discovery_cases-11044.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 ATM,C11orf65
 
 girirajan_13a_ASD_discovery_cases-11433.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 ATM,C11orf65
 
 girirajan_13a_ASD_discovery_cases-11542.p1
 
 
 Unknown
 Simplex
 Unknown
 SLN,RAB39A,SLC35F2
 
 girirajan_13a_ASD_discovery_cases-12211.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 ATM,C11orf65
 
 girirajan_13a_ASD_discovery_cases-14046.p1
 
 
 Unknown
 Simplex
 Unknown
 CASP1,CARD17,CASP1P1,OR2AL1P,CASP12,CASP17P,CASP4,CASP5,CARD16,CASP1P2,LINC02552,CARD18
 
 girirajan_13b_ASD_discovery_cases-7908109348
 
 
 Unknown
 Unknown
 Unknown
 CASP1,CASP12,CASP17P,CASP4,CASP5,CARD16,LINC02552
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001736
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 CASP1,CARD17,CASP1P1,OR2AL1P,CASP12,CASP17P,CASP4,CASP5,CARD16,CASP1P2,LINC02552,CARD18
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001786
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CASP1,CARD17,CASP1P1,OR2AL1P,RNU4-55P,RNU6-277P,CASP12,CASP17P,CASP4,CASP5,CARD16,CASP1P2,MSANTD4,KBTBD3,AASDHPPT,PDGFD,LINC02552,CARD18,GRIA4,GUCY1A2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002252
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 MTCO3P15,MTATP6P15,MTCO2P15,MTCO1P15,MTND2P26,MTND1P36,DYNC2H1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003782
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GUCY1A2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CASP1,CARD17,CASP1P1,OR2AL1P,RNU4-55P,RNU6-277P,CASP5,CARD16,CASP1P2,MSANTD4,KBTBD3,AASDHPPT,CARD18,GRIA4
 
 krumm_13_ASD_discovery_cases-case11667.p1
 aCGH (Agilent SurePrint G3 4x180K)
 
 Maternal
 Simplex
 Not segregated
 C11orf65
 
 krumm_15_ASD_discovery_cases-case11131.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 CASP4
 
 krumm_15_ASD_discovery_cases-case11199.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 DYNC2H1
 
 krumm_15_ASD_discovery_cases-case11368.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 CASP4,CASP5
 
 krumm_15_ASD_discovery_cases-case11542.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SLN,RAB39A,SLC35F2
 
 krumm_15_ASD_discovery_cases-case11667.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 C11orf65
 
 krumm_15_ASD_discovery_cases-case12462.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ALKBH8
 
 krumm_15_ASD_discovery_cases-case14046.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 CASP1,CARD17,CASP1P1,CASP4,CASP5,CARD16,CASP1P2,CARD18
 
 leppa_16_ASD_discovery_cases-AU027505
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected sibling but is present in unaffected sibling AU027503)
 CASP1,CARD17,CASP1P1,OR2AL1P,CASP12,CASP17P,CASP4,CASP5,CARD16,CASP1P2,LINC02552,CARD18
 
 leppa_16_ASD_discovery_cases-AU1899301
 
 
 Maternal
 Simplex
 Unknown
 MTCO3P15,MTATP6P15,MTCO2P15,MTCO1P15,MTND2P26,MTND1P36,DCUN1D5,DYNC2H1
 
 levy_11_ASD_discovery_cases-11542.p1
 
 
 Maternal
 Simplex
 Not segregated
 SLN,RAB39A,SLC35F2
 
 pinto_10_ASD_discovery_cases-case1395_301
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 CARD18
 
 pinto_14_ASD_discovery_cases2-case8418_201
 qPCR
 
 Maternal
 Unknown
 (no siblings)
 RAB39A,SLC35F2
 
 poultney_13_ASD_discovery_cases-case04HI3552A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 DCUN1D5,DYNC2H1
 
 poultney_13_ASD_discovery_cases-case05HI3930A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CARD17,CARD16,CASP1P2
 
 poultney_13_ASD_discovery_cases-case98HI0135B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CUL5,NPAT,ACAT1
 
 poultney_13_ASD_discovery_cases-caseHI4537
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CARD17,CARD16
 
 prasad_12_ASD_discovery_cases-case46736
 
 
 Unknown
 Unknown
 Unknown
 DYNC2H1
 
 prasad_12_ASD_discovery_cases-case47836
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case55449
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case64377L
 
 
 Unknown
 Unknown
 Unknown
 DDX10
 
 prasad_12_ASD_discovery_cases-case77114
 
 
 Unknown
 Unknown
 Unknown
 PDGFD
 
 quintela_17_DD/ID_discovery_cases-caseID_379
 
 
 Unknown
 
 Unknown
 CASP1,CARD17,CASP1P1,OR2AL1P,CASP4,CASP5,CARD16,CASP1P2,CARD18
 
 quintela_17_DD/ID_discovery_cases-caseID_486
 
 
 Unknown
 
 Unknown
 RNU6-654P,RNA5SP349,DDX10
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-304
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RAB39A,SLC35F2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-246
 qPCR
 
 Paternal
 Unknown
 Unknown
 DDX10
 
 sanders_11_ASD_discovery_cases-11006.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11041.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CARD16
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CARD16
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11131.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CASP4
 
 sanders_11_ASD_discovery_cases-11148.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11187.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11188.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11199.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DYNC2H1
 
 sanders_11_ASD_discovery_cases-11207.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11214.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11301.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11433.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATM,C11orf65
 
 sanders_11_ASD_discovery_cases-11444.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11458.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11464.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GUCY1A2
 
 sanders_11_ASD_discovery_cases-11494.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11506.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11542.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLN,RAB39A,SLC35F2
 
 sanders_11_ASD_discovery_cases-11543.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11561.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11563.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11733.p1
 
 
 Unknown
 Simplex (trio)
 NA
 PDGFD
 
 sanders_11_ASD_discovery_cases-11810.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11812.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11824.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 OR2AL1P,CARD18
 
 sanders_11_ASD_discovery_cases-11824.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11883.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-11895.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11919.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11933.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11998.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CASP12
 
 sanders_11_ASD_discovery_cases-12010.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12025.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYCSP29,DDX10
 
 sanders_11_ASD_discovery_cases-12041.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12053.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12158.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12173.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12211.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ATM,C11orf65
 
 sanders_11_ASD_discovery_cases-12238.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12257.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12300.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12320.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12334.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GUCY1A2
 
 sanders_11_ASD_discovery_cases-12337.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12354.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12380.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12381.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12418.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12476.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12476.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12484.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12568.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12682.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12708.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12717.p1
 
 
 Maternal
 Simplex (trio)
 NA
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12780.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12788.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12892.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12933.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-12979.p1
 
 
 Unknown
 Simplex (trio)
 NA
 PDGFD
 
 sanders_11_ASD_discovery_cases-13007.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-13045.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13050.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13089.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-13097.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13324.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC35F2
 
 soueid_16_ASD_discovery_cases-caseBAK38
 
 
 Maternal
 Simplex
 
 
 
 szatmari_07_ASD_discovery_cases-NAAR020-D6-HI1175
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 CASP1,CARD17,CASP1P1,OR2AL1P,CASP12,CASP17P,CASP4,CASP5,CARD16,CASP1P2,LINC02552,CARD18
 
 szatmari_07_ASD_discovery_cases-NAAR026-G7-3105.004
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 
 
 szatmari_07_ASD_discovery_cases-NAAR063-B2-HI1189
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 CASP1,CARD17,CASP1P1,OR2AL1P,CASP12,CASP17P,CASP4,CASP5,CARD16,CASP1P2,LINC02552,CARD18
 
 szatmari_07_ASD_discovery_cases-NAAR063-B3-HI1190
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 CASP1,CARD17,CASP1P1,OR2AL1P,CASP12,CASP17P,CASP4,CASP5,CARD16,CASP1P2,LINC02552,CARD18
 
 walker_13_ASD_discovery_cases-case2-1075-003
 
 
 Unknown
 Simplex
 Unknown
 DCUN1D5,DYNC2H1
 
 wenger_16_ASD_discovery_cases-case39
 
 
 Unknown
 
 
 CUL5,NPAT,ACAT1
 
 xu_16_ASD/DD/ID_discovery_cases-case27
 
 
 Unknown
 
 
 DYNC2H1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019040_
 
 
  Unknown
 
 
  SLN,RAB39A,ELMOD1,SLC35F2
 
engchuan_15_ASD_discovery_controls-controlB109643_1007853953
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
 
 
  Unknown
 
 
  ATM
 
engchuan_15_ASD_discovery_controls-controlB467855_1007853980
 
 
  Unknown
 
 
  SLC35F2
 
engchuan_15_ASD_discovery_controls-controlB490162_1007842249
 
 
  Unknown
 
 
  LINC02552
 
engchuan_15_ASD_discovery_controls-controlB868642_1007874852
 
 
  Unknown
 
 
  SLN
 
engchuan_15_ASD_discovery_controls-controlHABC_900219_900219
 
 
  Unknown
 
 
  LINC02552
 
engchuan_15_ASD_discovery_controls-controlHABC_900874_900874
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
 
 
  Unknown
 
 
  CARD18,GRIA4
 
krumm_13_ASD_discovery_controls-control11667.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  C11orf65
 
krumm_13_ASD_discovery_controls-control11773.s1
 
 
  Maternal
  Simplex
 
  C11orf65
 
krumm_13_ASD_discovery_controls-control13808.s1
 
 
  Maternal
  Simplex
 
  C11orf65
 
krumm_15_ASD_discovery_controls-control11199.s1
  Illumina 1M
 
  Paternal
 
 
  DYNC2H1
 
krumm_15_ASD_discovery_controls-control11542.s1
  Illumina 1M
 
  Maternal
 
 
  SLN,RAB39A,SLC35F2
 
krumm_15_ASD_discovery_controls-control11667.s1
  Illumina 1MDuo
 
  Maternal
 
 
  C11orf65
 
krumm_15_ASD_discovery_controls-control11773.s1
  Illumina 1MDuo
 
  Maternal
 
 
  C11orf65
 
leppa_16_ASD_discovery_controls-AU027503
 
 
  Paternal
  Multiplex
 
  CASP1,CARD17,CASP1P1,OR2AL1P,CASP12,CASP17P,CASP4,CASP5,CARD16,CASP1P2,LINC02552,CARD18
 
levy_11_ASD_discovery_controls-11542.s1
 
 
  Maternal
  Simplex
  NA
  SLN,RAB39A,SLC35F2
 
nord_11_ASD_discovery_controls-04C28240
 
 
 
 
 
  DDX10
 
sanders_11_ASD_discovery_controls-11008.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-11041.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CARD16
 
sanders_11_ASD_discovery_controls-11101.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CARD16,CASP1P2
 
sanders_11_ASD_discovery_controls-11199.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DYNC2H1
 
sanders_11_ASD_discovery_controls-11266.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11301.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-11307.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-11312.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11329.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-11439.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-11444.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-11458.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-11499.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-11542.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLN,RAB39A,SLC35F2
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11564.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11587.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-11597.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02552
 
sanders_11_ASD_discovery_controls-11666.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11773.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C11orf65
 
sanders_11_ASD_discovery_controls-11894.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C11orf65
 
sanders_11_ASD_discovery_controls-11933.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12006.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CASP12
 
sanders_11_ASD_discovery_controls-12053.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-12061.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CASP12
 
sanders_11_ASD_discovery_controls-12086.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-12154.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02552
 
sanders_11_ASD_discovery_controls-12173.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-12211.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATM,C11orf65
 
sanders_11_ASD_discovery_controls-12220.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-12223.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12231.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-12240.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C11orf65
 
sanders_11_ASD_discovery_controls-12300.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12346.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12383.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12440.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12457.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-12568.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12621.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-12674.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-12853.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GUCY1A2
 
sanders_11_ASD_discovery_controls-12933.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-13007.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC35F2
 
sanders_11_ASD_discovery_controls-13097.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13159.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC35F2
 

No Animal Model Data Available
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