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4q32.1CNV Type: Deletion-Duplication


Largest CNV size: 68000 bp

Statistics Box:
Number of Reports: 17


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
De novo rates and selection of large copy number variation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 928000
 1
 0
 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
 153694
 9
 3
 12
 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
 1026000
 0
 1
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 717127
 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
 420579
 2
 0
 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
 26031
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 42832
 1
 1
 2
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 20458
 0
 1
 1
 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
 1045000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 55192
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 3875000
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 68000
 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
 
 
 42449
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 86482
 1
 2
 3
 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
 278096
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 54912
 105
 1
 106
 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
 19590
 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
 155489
 15
 1
 16
 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
 503948
 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
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 21032
 1
 0
 1
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 20458
 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
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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)
 26035
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 86482
 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.
 
 146454
 98
 3
 101

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 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)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 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
 qPCR
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 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
 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
 
 
 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

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_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)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  digregorio_17_DD/ID_discovery_cases-DECIPHER_296516
  NA NA
 N/A
 M
 Cognitive impairment
 
 Cognitive impairment
 156422011
 157349856
  927846
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14213_3440
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 158973098
 159093135
  120038
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14251_3750
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160131377
 160165089
  33713
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18109_303
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 159429273
 159582967
  153695
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3392_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 158664167
 158695056
  30890
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4255_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160118192
 160150967
  32776
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4268_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160131377
 160184101
  52725
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4424_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 154079433
 154133253
  53821
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5316_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160131377
 160173825
  42449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6229_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160127011
 160158193
  31183
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6272_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160118192
 160150967
  32776
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6301_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160127011
 160158193
  31183
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6354_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 160127011
 160158193
  31183
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU1181301
 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
 157399398
 158429398
  1030001
 GRCh38
 Duplication
 No
  itsara_10_ASD_discovery_cases-HI3912
 NA
 NA
 Autism
 NA
 NA
 157349576
 158066703
  717128
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001637
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 155605468
 156026047
  420580
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002013
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 157385121
 157506916
  121796
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case12370.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12370. SRS score of 80.
 Full-scale IQ (FSIQ) score of 130.
 158669612
 158695643
  26032
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12370.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 158669612
 158695643
  26032
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12682.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 158680466
 158723298
  42833
 GRCh38
 Deletion
 Yes
  larson_17_ASD_discovery_cases-case48
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 155790436
 155810894
  20459
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1181301
 N/A
 N/A
 ASD
 
 
 157401390
 158446220
  1044831
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-12682.p1
 NA
 M
 ASD
 NA
 NA
 158679215
 158734406
  55192
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown167
  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)
 
 154706505
 158581572
  3875068
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-SK0103-005
 NA
 M
 ASD
 NA
 NA
 156336243
 156404243
  68001
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5316_3
 NA
 M
 ASD
 NA
 NA
 160131377
 160173825
  42449
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case100680L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 157468886
 157555367
  86482
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case55360
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 155727144
 155743337
  16194
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case65690
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 160207935
 160216748
  8814
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_127
 13 yrs.
 F
 Intellectual disability and ADHD
 ADHD, hyperphagia, dysmorphic facial features, arachnodactyly, scoliosis, myopia, astigmatism. CNV inherited from unaffected parent.
 Intellectual disability
 155838113
 156116208
  278096
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11029.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
 160131377
 160165089
  33713
 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
 155675238
 155677233
  1996
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11046.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 62
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11053.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11057.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13.9
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 156384123
 156392367
  8245
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11085.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
 156042540
 156046233
  3694
 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
 155675238
 155677233
  1996
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11131.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11145.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
 155675238
 155677233
  1996
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11249.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
 156383446
 156385628
  2183
 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
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11309.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11312.p1
 10
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11323.p1
 8.6
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
 156376913
 156385628
  8716
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11327.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11330.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
 159894529
 159900839
  6311
 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
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11364.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11371.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
 155675238
 155677233
  1996
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11383.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 95; verbal IQ, 95
 156042540
 156044451
  1912
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 160298916
 160304560
  5645
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11409.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11425.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
 160131377
 160162026
  30650
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11509.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11510.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11516.p1
 12.8
 M
 Aspergers
 NA
 Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11522.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
 156383446
 156396483
  13038
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11532.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11540.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
 155754217
 155756440
  2224
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11552.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11555.p1
 9.1
 F
 Aspergers
 NA
 Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
 160131377
 160160573
  29197
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11556.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11557.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11564.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
 155675238
 155676929
  1692
 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
 155675238
 155676929
  1692
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11584.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11592.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
 160118192
 160150967
  32776
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11599.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
 156384123
 156385628
  1506
 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
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11625.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
 157265190
 157274145
  8956
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11642.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
 156042540
 156044451
  1912
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11676.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 160131377
 160160573
  29197
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11766.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 96
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11775.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11782.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11857.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 101; verbal IQ, 96
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11872.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
 160127011
 160160573
  33563
 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
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12014.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
 156042540
 156044451
  1912
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12026.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12096.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12099.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12119.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12130.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12152.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
 160127011
 160158193
  31183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12187.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12228.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12228.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
 160111843
 160150967
  39125
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12229.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
 156042540
 156044451
  1912
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12235.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12241.p1
 4.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12299.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12323.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12325.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 81
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12329.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
 155539802
 155561178
  21377
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12331.p1
 12.3
 M
 Aspergers
 NA
 Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12343.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12350.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12356.p1
 5.8
 M
 Aspergers
 NA
 Full-scale IQ, 113; non-verbal IQ, 104; verbal IQ, 123
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12381.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12385.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 55; verbal IQ, 58
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12396.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 160127011
 160158193
  31183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12414.p1
 4.4
 M
 ASD
 NA
 Full-scale IQ, 116; non-verbal IQ, 129; verbal IQ, 90
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12539.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12558.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
 156358511
 156385628
  27118
 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
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12605.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 120; non-verbal IQ, 108; verbal IQ, 136
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12644.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
 160127011
 160162026
  35016
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12646.p1
 17.8
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 126; verbal IQ, 103
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12674.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12681.p1
 6.5
 F
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 65; verbal IQ, 69
 160127011
 160160573
  33563
 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
 158678391
 158733303
  54913
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12690.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12722.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
 160127011
 160158193
  31183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12739.p1
 6.8
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
 155539802
 155561178
  21377
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12781.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 75
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12782.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 76; verbal IQ, 77
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12907.p1
 13.8
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108
 160127011
 160162026
  35016
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12916.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 78; verbal IQ, 97
 160127011
 160158193
  31183
 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
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12930.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
 156042540
 156044451
  1912
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12937.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 160127011
 160158193
  31183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12960.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
 156383446
 156385628
  2183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12960.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
 154560137
 154563986
  3850
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12977.p1
 8.2
 F
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13136.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
 155675238
 155676929
  1692
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13146.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
 156042540
 156046233
  3694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13150.p1
 8.1
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 50
 160127011
 160158193
  31183
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13166.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13244.p1
 15.7
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13251.p1
 7.7
 F
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
 156384123
 156385628
  1506
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13304.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
 156384123
 156385628
  1506
 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
 156384123
 156385628
  1506
 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
 160131377
 160150967
  19591
 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-control110036015642_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  160131377
  160165089
  33713
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB365026_0067942628
  N/A
  N/A
  Control
  No previous psychiatric history
 
  154079433
  154128332
  48900
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB466917_1007874508
  N/A
  N/A
  Control
  No previous psychiatric history
 
  155954095
  155990839
  36745
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB598652_1007852874
  N/A
  N/A
  Control
  No previous psychiatric history
 
  160118726
  160150967
  32242
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB703798_0067942580
  N/A
  N/A
  Control
  No previous psychiatric history
 
  160131377
  160162054
  30678
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB918862_1007854693
  N/A
  N/A
  Control
  No previous psychiatric history
 
  154079433
  154128332
  48900
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB928566_1007844750
  N/A
  N/A
  Control
  No previous psychiatric history
 
  157371672
  157436251
  64580
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB937715_1007844782
  N/A
  N/A
  Control
  No previous psychiatric history
 
  154079433
  154128332
  48900
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB958271_1007843897
  N/A
  N/A
  Control
  No previous psychiatric history
 
  160146743
  160258542
  111800
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900056_900056
  N/A
  N/A
  Control
  No previous psychiatric history
 
  155985704
  156141193
  155490
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900345_900345
  N/A
  N/A
  Control
  No previous psychiatric history
 
  160127011
  160162054
  35044
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900433_900433
  N/A
  N/A
  Control
  No previous psychiatric history
 
  154079433
  154128332
  48900
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900450_900450
  N/A
  N/A
  Control
  No previous psychiatric history
 
  160127011
  160170447
  43437
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900534_900534
  N/A
  N/A
  Control
  No previous psychiatric history
 
  156482768
  156583883
  101116
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900542_900542
  N/A
  N/A
  Control
  No previous psychiatric history
 
  160118192
  160150967
  32776
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
  N/A
  N/A
  Control
  No previous psychiatric history
 
  160127011
  160158193
  31183
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-6106105636
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  158370078
  158874026
  503949
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control12950.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  155347782
  155368814
  21033
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control05C42739A
  N/A
  M
  Control
  NIMH Control (NIMH ID 72455)
 
  158669611
  158695645
  26035
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11027.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11029.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  160131377
  160160573
  29197
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11037.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11049.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11053.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11071.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11114.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11179.s1
  14.6
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156053545
  11006
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11190.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11219.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11303.s1
  4.5
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11323.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11327.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11345.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  156383446
  156385628
  2183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11374.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11383.s1
  5.5
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11425.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  160131377
  160162026
  30650
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11429.s1
  18.6
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156396483
  12361
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11509.s1
  20.3
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11520.s1
  10.8
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11521.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  155675238
  155676929
  1692
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11522.s1
  15.6
  M
  Control (matched sibling)
  NA
  NA
  156383446
  156396068
  12623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11522.s1
  15.6
  M
  Control (matched sibling)
  NA
  NA
  160111843
  160150967
  39125
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11532.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  156383446
  156385628
  2183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11541.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  156383446
  156385628
  2183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11543.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11552.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11556.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  155675238
  155676929
  1692
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  155675238
  155679045
  3808
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11584.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156044451
  1912
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11597.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  160131377
  160162026
  30650
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11601.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11625.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  157265190
  157274145
  8956
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11642.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11676.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11691.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11714.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  160127011
  160158193
  31183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11716.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  155666735
  155679045
  12311
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11828.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  154079433
  154128332
  48900
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11872.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  160127011
  160160573
  33563
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11881.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11881.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  156223187
  156225243
  2057
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11911.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  156033738
  156046233
  12496
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11919.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11928.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156043197
  658
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11946.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11972.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  154590273
  154599778
  9506
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11998.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  160127011
  160158193
  31183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12014.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12029.s1
  12.6
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  155675238
  155676929
  1692
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12051.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  160127011
  160158193
  31183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12091.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12170.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12187.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12187.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  160118726
  160150967
  32242
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  160127011
  160160573
  33563
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12210.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12219.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  156383446
  156385628
  2183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12229.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12235.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12241.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12296.s1
  13.9
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12299.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12316.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12321.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  159779710
  159926164
  146455
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12329.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  155539802
  155561178
  21377
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12331.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12341.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  160104073
  160111843
  7771
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12343.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12346.s1
  15
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156044451
  1912
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12469.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12501.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12512.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  160127011
  160158193
  31183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  156383446
  156385628
  2183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156044451
  1912
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12610.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  155675238
  155676929
  1692
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12674.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12690.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12739.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  155539802
  155561178
  21377
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156044451
  1912
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12759.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  160127011
  160165089
  38079
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12784.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  154580961
  154589565
  8605
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12792.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  156383446
  156398832
  15387
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12916.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  160127011
  160158193
  31183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12923.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12976.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13012.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13012.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  160127011
  160158193
  31183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13023.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13072.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  156384123
  156385628
  1506
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  156383446
  156385628
  2183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13104.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13135.s1
  17.1
  M
  Control (matched sibling)
  NA
  NA
  156042540
  156046233
  3694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13166.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  156383446
  156385628
  2183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  159340654
  159372391
  31738
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13301.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  160127011
  160158193
  31183
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13327.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  160111843
  160150967
  39125
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_296516
 qPCR
 
 De novo
 
 
 LINC02272,RPPH1-3P,RNU6-582P,PDGFC,GLRB,GRIA2
 
 engchuan_15_ASD_discovery_cases-case14213_3440
 
 
 Unknown
 
 
 FABP5P12,C4orf45
 
 engchuan_15_ASD_discovery_cases-case14251_3750
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case18109_303
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3392_3
 
 
 Unknown
 
 
 C4orf46,ETFDH
 
 engchuan_15_ASD_discovery_cases-case4255_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4268_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4424_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5316_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6229_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6272_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6301_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6354_4
 
 
 Unknown
 
 
 
 
 girirajan_13a_ASD_discovery_cases-AU1181301
 
 
 Unknown
 Multiplex
 Unknown
 LINC02433,NUDT19P5,RNU4-79P,FAM198B-AS1,TMEM144,RXFP1
 
 itsara_10_ASD_discovery_cases-HI3912
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 LINC02433,GRIA2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001637
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FTH1P21,GUCY1B1,TDO2,CTSO,GUCY1A1,ASIC5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002013
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 
 
 krumm_13_ASD_discovery_cases-case12370.p1
 aCGH (Agilent SurePrint G3 4x180K)
 
 Maternal
 Simplex
 Segregated
 C4orf46,ETFDH
 
 krumm_15_ASD_discovery_cases-case12370.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 C4orf46,ETFDH
 
 krumm_15_ASD_discovery_cases-case12682.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 ETFDH,PPID
 
 larson_17_ASD_discovery_cases-case48
 
 
 Unknown
 
 Unknown
 GUCY1B1
 
 leppa_16_ASD_discovery_cases-AU1181301
 qPCR
 
 De novo
 Unknown
 Possibly segregated
 LINC02433,NUDT19P5,RNU4-79P,FAM198B-AS1,TMEM144,RXFP1
 
 levy_11_ASD_discovery_cases-12682.p1
 
 
 Paternal
 Simplex
 Segregated
 ETFDH,PPID
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown167
 
 
 Unknown
 Unknown
 Unknown
 NDUFB2P1,RNU2-66P,RNU2-44P,NPY2R,YWHAEP4,MTCYBP17,MTND6P17,MTND5P9,MTND4P8,MTND3P3,MTCO3P9,MTATP6P9,MTCO2P9,MTCO1P9,MTND2P33,MTND1P22,FTH1P21,LINC02272,RPPH1-3P,RNU6-582P,LINC02433,NUDT19P5,RNU4-79P,MAP9,GUCY1B1,TDO2,CTSO,FAM198B-AS1,LRAT,RBM46,GUCY1A1,ASIC5,PDGFC,GLRB,TMEM144,GRIA2,RXFP1
 
 marshall_08_ASD_discovery_cases-SK0103-005
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5316_3
 Agilent1M
 
 maternal
 NA
 NA
 
 
 prasad_12_ASD_discovery_cases-case100680L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case55360
 qPCR
 
 Maternal
 Unknown
 Unknown
 FGA
 
 prasad_12_ASD_discovery_cases-case65690
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_127
 
 
 Maternal
 
 Unknown
 FTH1P21,TDO2,CTSO,ASIC5
 
 sanders_11_ASD_discovery_cases-11029.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11041.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 GUCY1A1
 
 sanders_11_ASD_discovery_cases-11046.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11053.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11057.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11085.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GUCY1A1
 
 sanders_11_ASD_discovery_cases-11131.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11145.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GUCY1A1
 
 sanders_11_ASD_discovery_cases-11220.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11249.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11267.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11309.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11312.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11323.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11327.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11345.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11364.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11371.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GUCY1A1
 
 sanders_11_ASD_discovery_cases-11383.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11409.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11425.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11509.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11510.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11516.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11522.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11532.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11540.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11552.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11555.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11556.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11557.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11564.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GUCY1A1
 
 sanders_11_ASD_discovery_cases-11565.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 GUCY1A1
 
 sanders_11_ASD_discovery_cases-11584.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11592.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11599.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11611.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11625.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GRIA2
 
 sanders_11_ASD_discovery_cases-11642.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11676.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11766.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11775.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11782.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11857.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11872.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11919.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12014.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12026.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12096.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12099.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12119.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12130.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12152.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12187.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12228.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12228.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12229.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12235.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12241.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12299.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12323.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12325.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12329.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12331.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12343.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12350.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12356.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12381.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12385.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12396.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12414.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12539.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12558.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12581.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12605.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12644.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12646.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12674.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12681.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12682.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ETFDH,PPID
 
 sanders_11_ASD_discovery_cases-12690.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12722.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12739.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12781.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12782.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12907.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12916.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12925.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12930.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12937.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12960.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12960.p1
 
 
 Unknown
 Simplex (trio)
 NA
 FGB
 
 sanders_11_ASD_discovery_cases-12977.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13136.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GUCY1A1
 
 sanders_11_ASD_discovery_cases-13146.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13150.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13166.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13244.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13251.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13304.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13382.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 tabet_12_ASD_discovery_cases-patient2
 
 
 Unknown (possibly de novo)
 Multiplex
 Unknown
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015642_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB365026_0067942628
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB598652_1007852874
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB703798_0067942580
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB918862_1007854693
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB928566_1007844750
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB937715_1007844782
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB958271_1007843897
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900056_900056
 
 
  Unknown
 
 
  FTH1P21
 
engchuan_15_ASD_discovery_controls-controlHABC_900345_900345
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900433_900433
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900450_900450
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900534_900534
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900542_900542
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-6106105636
 
 
  Unknown
 
 
  RNU4-79P,C4orf46,RNU6-128P,ETFDH,PPID,FNIP2,RXFP1
 
krumm_15_ASD_discovery_controls-control12950.s1
  1M-Duov3
 
  Maternal
 
 
  MAP9
 
poultney_13_ASD_discovery_controls-control05C42739A
 
 
  Unknown
 
 
  C4orf46,ETFDH
 
sanders_11_ASD_discovery_controls-11027.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11029.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11037.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11049.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11053.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11071.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11114.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11179.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11190.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11219.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11303.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11323.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11327.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11345.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11374.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11383.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11425.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11429.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11509.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11520.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11521.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GUCY1A1
 
sanders_11_ASD_discovery_controls-11522.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11522.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11532.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11541.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11543.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11552.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11556.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GUCY1A1
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GUCY1A1
 
sanders_11_ASD_discovery_controls-11584.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11597.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11601.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11625.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GRIA2
 
sanders_11_ASD_discovery_controls-11642.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11676.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11691.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11714.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11716.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GUCY1A1
 
sanders_11_ASD_discovery_controls-11828.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11872.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11881.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11881.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11911.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11919.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11928.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11946.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11972.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FGA
 
sanders_11_ASD_discovery_controls-11998.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12014.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12029.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GUCY1A1
 
sanders_11_ASD_discovery_controls-12051.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12091.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12170.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12187.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12187.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12210.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12219.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12229.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12235.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12241.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12296.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12299.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12316.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12321.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12329.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12331.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12341.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12343.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12346.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12469.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12501.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12512.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12610.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GUCY1A1
 
sanders_11_ASD_discovery_controls-12674.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12690.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12739.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12759.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12784.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FGA
 
sanders_11_ASD_discovery_controls-12792.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12916.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12923.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12976.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13012.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13012.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13023.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13072.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13104.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13135.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13166.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RAPGEF2
 
sanders_11_ASD_discovery_controls-13301.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13327.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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