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1p33CNV Type: Deletion-Duplication


Largest CNV size: 111884 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 asadollahi_14_NDD_discovery_cases
 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
 714
 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
 N/A
 N/A
 194000
 0
 1
 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
 376257
 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
 128626
 27
 6
 33
 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
 104244
 1
 0
 1
 han_22_ASD/DD/ID_discovery_cases
  NA NA
 Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
 410
 151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
 Mean age, 2 yrs. 11 mos.
 68.78% Male
 145115
 1
 0
 1
 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
 4532
 1
 4
 5
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 19733
 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
 700000
 0
 1
 1
 lintas_17_ASD_discovery_cases
 ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
 41
 Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
 N/A
 87.80% Male
 66159
 2
 0
 2
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 178654
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 77782
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 11849
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 85180
 10
 1
 11
 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)
 27979
 0
 1
 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
 182223
 2
 0
 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
 69583
 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
 111884
 59
 10
 69

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
 402854
 27
 3
 30
 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
 16801
 1
 3
 4
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 42800
 0
 3
 3
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 43260
 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.
 
 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)
 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)
 182223
 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.
 
 442644
 38
 8
 46

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 asadollahi_14_NDD_discovery_cases
  Predominantly European
 Array SNP
  Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
 HMM
 Affymetrix ChAS v.1.0.1
 MLPA
 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
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 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
 lintas_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome CGH SurePrint G3 4x180K
 ADM-2
 Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
 Validation by visual inspection, RT-PCR, or PCR
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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)
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  asadollahi_14_NDD_discovery_cases-case60482
 N/A
 M
 NDD
 Case with unspecified neurodevelopmental disorder
 
 46366861
 46561059
  194199
 GRCh38
 Duplication
 Yes
  davis_09_ASD_discovery_cases-AU005214
 NA
 NA
 Non-syndromic ASD
 Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 46992904
 47369161
  376257
 Unknown
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13006_73
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48231554
 48327549
  95996
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13079_933
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48199926
 48328552
  128627
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13098_1153
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48242556
 48327549
  84994
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13162_1793
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48356892
 48403534
  46643
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14000_30
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48181452
 48223920
  42469
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14080_1360
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14195_3190
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48337933
 48453519
  115587
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14239_2920
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49447388
 49532567
  85180
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14244_3680
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14246_3700
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16077_1571056001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 46470751
 46542172
  71422
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2160_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2295_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3263_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3313_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3377_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48349518
 48403534
  54017
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4050_100
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4282_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4394_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5007_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5037_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5042_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5135_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 50891893
 50924991
  33099
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5201_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5304_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5431_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6137_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49719403
 49846155
  126753
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6248_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6321_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6341_6
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48972333
 49084857
  112525
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6370_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49296746
 49382189
  85444
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6416_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8581_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49450176
 49532567
  82392
 GRCh38
 Deletion
 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
 49754445
 49858688
  104244
 GRCh38
 Deletion
 No
  han_22_ASD/DD/ID_discovery_cases-case16D0894
  NA NA
 2 yrs. 10 mos.
 F
 Developmental delay
 Facial dysmorphism
 
 49211508
 49356622
  145115
 GRCh38
 Deletion
 No
  krumm_13_ASD_discovery_cases-case11146.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11146. SRS score of 90.
 Full-scale IQ (FSIQ) score of 85.
 48399350
 48403882
  4533
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case12394.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12394. SRS score of 77.
 Full-scale IQ (FSIQ) score of 88.
 47046466
 47050174
  3709
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12396.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12396. SRS score of 90.
 Full-scale IQ (FSIQ) score of 99.
 47046466
 47050174
  3709
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13590.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13590. SRS score of 90.
 Full-scale IQ (FSIQ) score of 86.
 47046466
 47050174
  3709
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13809.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13809. SRS score of 77.
 Full-scale IQ (FSIQ) score of 61.
 47046466
 47050174
  3709
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case13901.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 46799081
 46818814
  19734
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU1756303
 N/A
 M
 ASD
 
 
 47050328
 47751328
  701001
 GRCh38
 Duplication
 No
  lintas_17_ASD_discovery_cases-case16.1
 N/A
 N/A
 Autism
 No additional clinical information available
 
 49456304
 49522463
  66160
 GRCh38
 Deletion
 Yes
  lintas_17_ASD_discovery_cases-case16.2
 N/A
 N/A
 Autism
 No additional clinical information available
 
 49456304
 49522463
  66160
 GRCh38
 Deletion
 Yes
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case14
 22 months
 M
 Anxiety disorder
 Speech/language delay, autism/autistic behavior, anxiety disorder. Dysmorphic features and congenital anomalies: no dysmorphic features by Dev Peds, generalized hypotonia, tonsils/adenoids removed, heart murmur, 3 holes in heart (healed without intervention). Family history: mother with deletion is neurotypical.
 
 49217498
 49396151
  178654
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam1131Proband10787
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 49453505
 49531287
  77783
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-207-1
 
 
 ASD
 
 
 49370267
 49382115
  11849
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case14080_1360
 NA
 F
 Autism
 No language, neurodevelopmental delay, no dysmorphic features, no epilepsy, sleep problems
 Moderate MR
 49450176
 49532567
  82392
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case14239_2920
 NA
 M
 Autism
 Phrase speech delay, no epilepsy, no dysmorphic features
 Normal IQ
 49447388
 49532567
  85180
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case14244_3680
 NA
 M
 ASD
 Phrase speech delay, no epilepsy, asthma, no dysmorphic features
 Normal IQ
 49450176
 49532567
  82392
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case14246_3700
 NA
 M
 ASD
 Phrase speech delay, no epilepsy, no dysmorphic features
 Normal IQ
 49450176
 49532567
  82392
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5007_3
 NA
 M
 Autism
 Anxiety, language delay, no epilepsy, no dysmorphic features
 Below average IQ
 49450176
 49532567
  82392
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5037_3
 NA
 M
 ASD
 NA
 NA
 49450176
 49532567
  82392
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5042_4
 NA
 M
 ASD
 NA
 NA
 49450176
 49532567
  82392
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5135_3
 NA
 M
 ASD
 NA
 NA
 50891893
 50924991
  33099
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5201_3
 NA
 F
 ASD
 NA
 NA
 49450176
 49532567
  82392
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5304_3
 NA
 M
 ASD
 NA
 NA
 49450176
 49532567
  82392
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5431_4
 NA
 M
 ASD
 NA
 NA
 49450176
 49532567
  82392
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1274A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU066104; NDAR ID NDAR_INVVV950VBW)
 
 47282343
 47310321
  27979
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case128963
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 49452379
 49634601
  182223
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case83553L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 49371854
 49380288
  8435
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-029
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 49045752
 49115334
  69583
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11027.p1
 9.3
 M
 ASD
 NA
 Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11090.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11097.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
 47042136
 47058592
  16457
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11146.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
 48397693
 48403534
  5842
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11167.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
 47416306
 47417352
  1047
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11276.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11282.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 83
 49447388
 49532567
  85180
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11298.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 141; non-verbal IQ, 132; verbal IQ, 143
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11331.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11372.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11422.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
 49450176
 49536493
  86318
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11433.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11446.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11452.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
 49447388
 49536493
  89106
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11453.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11456.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11470.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 76
 47042136
 47058592
  16457
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11472.p1
 13.7
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11480.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11491.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11521.p1
 17.1
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 101; verbal IQ, 128
 47416306
 47417352
  1047
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11571.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
 47416306
 47417352
  1047
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11573.p1
 8.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
 47416306
 47418097
  1792
 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
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11610.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11620.p1
 16.5
 M
 ASD
 NA
 Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11622.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
 47416306
 47418097
  1792
 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
 47416306
 47418097
  1792
 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
 47417089
 47417352
  264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11665.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
 47417089
 47417352
  264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11673.p1
 6.3
 M
 Aspergers
 NA
 Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 92
 47416306
 47417352
  1047
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11677.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11694.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11711.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11740.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
 47416306
 47417352
  1047
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11922.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11924.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 74
 49330485
 49351711
  21227
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11928.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 47416306
 47417352
  1047
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11986.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12007.p1
 8.7
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12019.p1
 9.1
 M
 ASD
 NA
 Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
 47416306
 47417352
  1047
 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
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12060.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
 47416306
 47417352
  1047
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12091.p1
 4.4
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12121.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
 47416306
 47418097
  1792
 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
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12149.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12154.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12173.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
 47042136
 47052718
  10583
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 49450176
 49536493
  86318
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12210.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
 49450176
 49532567
  82392
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12313.p1
 11.8
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
 49839374
 49951258
  111885
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12396.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 47042136
 47058592
  16457
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12407.p1
 9.4
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
 47042136
 47058592
  16457
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12407.p1
 9.4
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
 49450176
 49536493
  86318
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12417.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
 47042136
 47058592
  16457
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12481.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
 49450176
 49532567
  82392
 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
 47416306
 47417352
  1047
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12602.p1
 9.8
 M
 Aspergers
 NA
 Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 106
 47042136
 47058592
  16457
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12637.p1
 7.3
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
 46983814
 47002797
  18984
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12676.p1
 11.5
 M
 ASD
 NA
 Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
 49483334
 49554177
  70844
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12710.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12740.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 113; verbal IQ, 131
 47416306
 47418097
  1792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12744.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
 49124175
 49163890
  39716
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12867.p1
 16.7
 F
 ASD
 NA
 Full-scale IQ, 60; non-verbal IQ, 63; verbal IQ, 57
 46898221
 46961472
  63252
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 47416306
 47418097
  1792
 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-control110036017648_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49103962
  49142514
  38553
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036018950_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036019495_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49823491
  49853525
  30035
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036021954_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036023000_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447388
  49532567
  85180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB123947_1007876030
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB297614_1007874903
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447388
  49532567
  85180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB328508_1007873324
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB331842_1007873285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447388
  49532567
  85180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB354740_0067942586
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48199926
  48328552
  128627
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB410585_1007840274
  N/A
  N/A
  Control
  No previous psychiatric history
 
  47695953
  47855549
  159597
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB495422_1007852884
  N/A
  N/A
  Control
  No previous psychiatric history
 
  50581243
  50941912
  360670
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB637625_1007875341
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB742876_1007852892
  N/A
  N/A
  Control
  No previous psychiatric history
 
  50564248
  50636022
  71775
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB984152_1007842480
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49447388
  49532567
  85180
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900408_900408
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49388176
  49791030
  402855
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900431_900431
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900518_900518
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900589_900589
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900613_900613
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900923_900923
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902482_902482
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902672_902672
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48458452
  48501330
  42879
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902798_902798
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902856_902856
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49450176
  49528828
  78653
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902894_902894
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49407367
  49465077
  57711
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11146.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11146. SRS score of 40.
 
  48399350
  48403882
  4533
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control11203.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11203. SRS score of 53.
 
  47046466
  47050174
  3709
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12396.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12396. SRS score of 51.
 
  47046466
  47050174
  3709
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13447.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13447. SRS score N/A.
 
  48222736
  48239537
  16802
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12274.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  47251135
  47263116
  11982
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13412.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  47251135
  47263116
  11982
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13528.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  47333945
  47376745
  42801
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11250.s1
  NA
  F
  Control
  NA
  NA
  48456854
  48500113
  43260
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11027.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11118.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  49544350
  49559176
  14827
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11146.s1
  9.7
  M
  Control (matched sibling)
  NA
  NA
  48397693
  48403534
  5842
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11203.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  47042136
  47058592
  16457
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11250.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  48458452
  48501330
  42879
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11282.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  49447388
  49532567
  85180
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11298.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11321.s1
  15.2
  F
  Control (matched sibling)
  NA
  NA
  47417089
  47417352
  264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11345.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11372.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11422.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  49450176
  49554177
  104002
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11439.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11446.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11452.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  49450176
  49532567
  82392
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11456.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  47416306
  47417352
  1047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11470.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  46312011
  46399999
  87989
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11476.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11480.s1
  13.8
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47417352
  1047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11571.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11573.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47417352
  1047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11592.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11620.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11622.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47417352
  1047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11625.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11638.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  47416306
  47417352
  1047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11673.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11715.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11716.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  47042136
  47058592
  16457
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11924.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  49326615
  49351711
  25097
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11986.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47417352
  1047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12007.s1
  10.9
  M
  Control (matched sibling)
  NA
  NA
  47416306
  47418097
  1792
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  46632436
  46655830
  23395
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12083.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47417352
  1047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12154.s1
  9.1
  F
  Control (matched sibling)
  NA
  NA
  47416306
  47417352
  1047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12173.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  47042136
  47057518
  15383
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12198.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  49450176
  49544350
  94175
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12407.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  47042136
  47058592
  16457
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12407.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  49450176
  49536493
  86318
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12494.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  47042136
  47058592
  16457
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12619.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  47042136
  47058592
  16457
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12667.s1
  19.3
  M
  Control (matched sibling)
  NA
  NA
  49442101
  49536493
  94393
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12867.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  46898221
  46961472
  63252
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12939.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  47417089
  47423745
  6657
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13083.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  47434225
  47460350
  26126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13174.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  49568364
  50011008
  442645
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 asadollahi_14_NDD_discovery_cases-case60482
 MLPA
 
 Paternal
 Unknown
 Unknown
 FAAHP1,LINC01398,DMBX1,MKNK1-AS1,KNCN,MKNK1,FAAH
 
 davis_09_ASD_discovery_cases-AU005214
 
 
 Unknown
 Unknown
 Unknown
 CYP4B1, CYP4A11, CYP4X1, CYP4Z1, CYP4A22, PDZK1IP1
 
 engchuan_15_ASD_discovery_cases-case13006_73
 
 
 Unknown
 
 
 PPP1R8P1,SPATA6,SLC5A9
 
 engchuan_15_ASD_discovery_cases-case13079_933
 
 
 Unknown
 
 
 PPP1R8P1,SPATA6,SLC5A9
 
 engchuan_15_ASD_discovery_cases-case13098_1153
 
 
 Unknown
 
 
 PPP1R8P1,SPATA6,SLC5A9
 
 engchuan_15_ASD_discovery_cases-case13162_1793
 
 
 Unknown
 
 
 SPATA6
 
 engchuan_15_ASD_discovery_cases-case14000_30
 
 
 Unknown
 
 
 SKINT1L,SLC5A9
 
 engchuan_15_ASD_discovery_cases-case14080_1360
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case14195_3190
 
 
 Unknown
 
 
 RNU6-723P,RNU4-61P,SPATA6
 
 engchuan_15_ASD_discovery_cases-case14239_2920
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case14244_3680
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case14246_3700
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case16077_1571056001
 
 
 Unknown
 
 
 FAAHP1,DMBX1,MKNK1-AS1
 
 engchuan_15_ASD_discovery_cases-case2160_1
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case2295_1
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case3263_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case3313_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case3377_3
 
 
 Unknown
 
 
 SPATA6
 
 engchuan_15_ASD_discovery_cases-case4050_100
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case4282_1
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case4394_1
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case5007_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case5037_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case5042_4
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case5135_3
 
 
 Unknown
 
 
 FAF1
 
 engchuan_15_ASD_discovery_cases-case5201_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case5304_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case5431_4
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case6137_5
 
 
 Unknown
 
 
 ZNF859P,AGBL4
 
 engchuan_15_ASD_discovery_cases-case6248_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case6321_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case6341_6
 
 
 Unknown
 
 
 AGBL4
 
 engchuan_15_ASD_discovery_cases-case6370_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case6416_3
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 engchuan_15_ASD_discovery_cases-case8581_201
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 fan_18_DD/ID_discovery_cases-subject2
 
 
 Unknown
 
 Unknown
 ZNF859P,AGBL4
 
 han_22_ASD/DD/ID_discovery_cases-case16D0894
 
 
 Unknown
 
 
 AGBL4,AGBL4-AS1
 
 krumm_13_ASD_discovery_cases-case11146.p1
 
 
 Maternal
 Simplex
 Not segregated
 SPATA6
 
 krumm_13_ASD_discovery_cases-case12394.p1
 
 
 Paternal
 Simplex
 Segregated
 CYP4X1
 
 krumm_13_ASD_discovery_cases-case12396.p1
 
 
 Maternal
 Simplex
 Not segregated
 CYP4X1
 
 krumm_13_ASD_discovery_cases-case13590.p1
 
 
 Paternal
 Simplex
 Segregated
 CYP4X1
 
 krumm_13_ASD_discovery_cases-case13809.p1
 
 
 Maternal
 Simplex
 Segregated
 CYP4X1
 
 krumm_15_ASD_discovery_cases-case13901.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 CYP4B1
 
 leppa_16_ASD_discovery_cases-AU1756303
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 CYP4A22,MTND1P34,LINC00853,FOXE3,FOXD2-AS1,FOXD2,RPL21P24,ATP6V0E1P4,CYP4X1,CYP4Z1,CYP4A22-AS1,TAL1,STIL,CMPK1,LINC01389,LINC01738,PDZK1IP1
 
 lintas_17_ASD_discovery_cases-case16.1
 Validation by visual inspection, RT-PCR, or PCR
 
 Maternal
 Multiplex
 Segregated (CNV observed in all both affected siblings)
 AGBL4-IT1,AGBL4
 
 lintas_17_ASD_discovery_cases-case16.2
 Validation by visual inspection, RT-PCR, or PCR
 
 Maternal
 Multiplex
 Segregated (CNV observed in all both affected siblings)
 AGBL4-IT1,AGBL4
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case14
 
 
 Unknown
 
 
 AGBL4-IT1,AGBL4
 
 nava_13_ASD_discovery_cases-Fam1131Proband10787
 
 
 Paternal
 Multiplex
 Unknown
 AGBL4-IT1,AGBL4
 
 nord_11_ASD_discovery_cases-207-1
 
 
 Paternal
 
 
 AGBL4
 
 pinto_10_ASD_discovery_cases-case14080_1360
 qPCR-Paternal
 
 paternal
 Simplex
 NA
 AGBL4-IT1,AGBL4
 
 pinto_10_ASD_discovery_cases-case14239_2920
 qPCR-Maternal
 
 maternal
 Simplex
 NA
 AGBL4-IT1,AGBL4
 
 pinto_10_ASD_discovery_cases-case14244_3680
 qPCR-Maternal
 
 maternal
 Simplex
 NA
 AGBL4-IT1,AGBL4
 
 pinto_10_ASD_discovery_cases-case14246_3700
 qPCR-Maternal
 
 maternal
 Simplex
 NA
 AGBL4-IT1,AGBL4
 
 pinto_10_ASD_discovery_cases-case5007_3
 Agilent1M
 
 paternal
 Multiplex
 NA
 AGBL4-IT1,AGBL4
 
 pinto_10_ASD_discovery_cases-case5037_3
 Agilent1M
 
 paternal
 NA
 NA
 AGBL4-IT1,AGBL4
 
 pinto_10_ASD_discovery_cases-case5042_4
 Agilent1M
 
 paternal
 NA
 NA
 AGBL4-IT1,AGBL4
 
 pinto_10_ASD_discovery_cases-case5135_3
 Agilent1M
 
 maternal
 NA
 NA
 FAF1
 
 pinto_10_ASD_discovery_cases-case5201_3
 Agilent1M
 
 paternal
 NA
 NA
 AGBL4-IT1,AGBL4
 
 pinto_10_ASD_discovery_cases-case5304_3
 Agilent1M-Maternal
 
 maternal
 NA
 NA
 AGBL4-IT1,AGBL4
 
 pinto_10_ASD_discovery_cases-case5431_4
 Agilent1M
 
 maternal
 NA
 NA
 AGBL4-IT1,AGBL4
 
 poultney_13_ASD_discovery_cases-case00HI1274A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 STIL
 
 prasad_12_ASD_discovery_cases-case128963
 
 
 Unknown
 Unknown
 Unknown
 AGBL4
 
 prasad_12_ASD_discovery_cases-case83553L
 
 
 Unknown
 Unknown
 Unknown
 AGBL4
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-029
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 AGBL4
 
 sanders_11_ASD_discovery_cases-11027.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-11090.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-11097.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CYP4X1
 
 sanders_11_ASD_discovery_cases-11146.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SPATA6
 
 sanders_11_ASD_discovery_cases-11167.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11276.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 FOXE3
 
 sanders_11_ASD_discovery_cases-11282.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-11298.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-11331.p1
 
 
 Paternal
 Simplex (trio)
 NA
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-11372.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11422.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-11433.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11446.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11452.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-11453.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11456.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11470.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP4X1
 
 sanders_11_ASD_discovery_cases-11472.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11480.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11491.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11521.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11571.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11573.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11592.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11610.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11620.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11622.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11625.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11642.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11665.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11673.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11677.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11694.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11711.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11740.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11922.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11924.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4
 
 sanders_11_ASD_discovery_cases-11928.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-11986.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-12007.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-12019.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 FOXE3
 
 sanders_11_ASD_discovery_cases-12025.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FOXE3
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-12060.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-12091.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-12121.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-12130.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-12149.p1
 
 
 Both parents
 Simplex (trio)
 NA
 FOXE3
 
 sanders_11_ASD_discovery_cases-12154.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 
 sanders_11_ASD_discovery_cases-12173.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP4X1
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-12210.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-12313.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF859P,AGBL4
 
 sanders_11_ASD_discovery_cases-12396.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP4X1
 
 sanders_11_ASD_discovery_cases-12407.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP4X1
 
 sanders_11_ASD_discovery_cases-12407.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-12417.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CYP4X1
 
 sanders_11_ASD_discovery_cases-12481.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4-IT1,AGBL4
 
 sanders_11_ASD_discovery_cases-12558.p1
 
 
 Both parents
 Simplex (trio)
 NA
 FOXE3
 
 sanders_11_ASD_discovery_cases-12602.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP4X1
 
 sanders_11_ASD_discovery_cases-12637.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CYP4A43P,CYP4A27P
 
 sanders_11_ASD_discovery_cases-12676.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 AGBL4
 
 sanders_11_ASD_discovery_cases-12710.p1
 
 
 Both parents
 Simplex (trio)
 NA
 FOXE3
 
 sanders_11_ASD_discovery_cases-12740.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FOXE3
 
 sanders_11_ASD_discovery_cases-12744.p1
 
 
 Maternal
 Simplex (trio)
 NA
 AGBL4
 
 sanders_11_ASD_discovery_cases-12867.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CYP4Z2P,CYP4A11
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FOXE3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017648_
 
 
  Unknown
 
 
  AGBL4
 
engchuan_15_ASD_discovery_controls-control110036018950_
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-control110036019495_
 
 
  Unknown
 
 
  ZNF859P,AGBL4
 
engchuan_15_ASD_discovery_controls-control110036021954_
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-control110036023000_
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlB123947_1007876030
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlB297614_1007874903
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlB328508_1007873324
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlB354740_0067942586
 
 
  Unknown
 
 
  PPP1R8P1,SPATA6,SLC5A9
 
engchuan_15_ASD_discovery_controls-controlB410585_1007840274
 
 
  Unknown
 
 
  LINC01738,TRABD2B
 
engchuan_15_ASD_discovery_controls-controlB495422_1007852884
 
 
  Unknown
 
 
  RNU6-1026P,PHBP12,MRPS6P2,FAF1
 
engchuan_15_ASD_discovery_controls-controlB637625_1007875341
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
 
 
  Unknown
 
 
  RNU6-1026P,FAF1
 
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_900408_900408
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_900431_900431
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_900518_900518
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_900589_900589
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_900613_900613
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_900923_900923
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_902482_902482
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_902672_902672
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
 
 
  Unknown
 
 
  SPATA6
 
engchuan_15_ASD_discovery_controls-controlHABC_902798_902798
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_902856_902856
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
engchuan_15_ASD_discovery_controls-controlHABC_902894_902894
 
 
  Unknown
 
 
  AGBL4-IT1,AGBL4
 
krumm_13_ASD_discovery_controls-control11146.s1
 
 
  Maternal
  Simplex
 
  SPATA6
 
krumm_13_ASD_discovery_controls-control11203.s1
 
 
  Maternal
  Simplex
 
  CYP4X1
 
krumm_13_ASD_discovery_controls-control12396.s1
 
 
  Maternal
  Simplex
 
  CYP4X1
 
krumm_13_ASD_discovery_controls-control13447.s1
  Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
 
  De novo
  Simplex
 
  SLC5A9
 
krumm_15_ASD_discovery_controls-control12274.s1
  Illumina 1MDuo
 
  Maternal
 
 
  STIL
 
krumm_15_ASD_discovery_controls-control13412.s1
  1M-Duov3
 
  Maternal
 
 
  STIL
 
krumm_15_ASD_discovery_controls-control13528.s1
  1M-Duov3
 
  Paternal
 
 
  CMPK1
 
levy_11_ASD_discovery_controls-11250.s1
 
 
  Maternal
  Simplex
  NA
  SPATA6
 
sanders_11_ASD_discovery_controls-11027.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AGBL4-IT1,AGBL4
 
sanders_11_ASD_discovery_controls-11118.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AGBL4
 
sanders_11_ASD_discovery_controls-11146.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SPATA6
 
sanders_11_ASD_discovery_controls-11203.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP4X1
 
sanders_11_ASD_discovery_controls-11250.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SPATA6
 
sanders_11_ASD_discovery_controls-11282.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AGBL4-IT1,AGBL4
 
sanders_11_ASD_discovery_controls-11298.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AGBL4-IT1,AGBL4
 
sanders_11_ASD_discovery_controls-11321.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11345.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11372.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11422.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AGBL4-IT1,AGBL4
 
sanders_11_ASD_discovery_controls-11439.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11446.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11452.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AGBL4-IT1,AGBL4
 
sanders_11_ASD_discovery_controls-11456.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11470.s1
 
 
  Paternal
  Simplex (quad)
  NA
  UQCRH,NSUN4,FAAH
 
sanders_11_ASD_discovery_controls-11476.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11480.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11571.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11573.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11592.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11620.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11622.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11625.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11638.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11673.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11715.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11716.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP4X1
 
sanders_11_ASD_discovery_controls-11924.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AGBL4
 
sanders_11_ASD_discovery_controls-11986.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-12007.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ATPAF1
 
sanders_11_ASD_discovery_controls-12083.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-12154.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-12173.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP4X1
 
sanders_11_ASD_discovery_controls-12198.s1
 
 
  Paternal
  Simplex (quad)
  NA
  AGBL4-IT1,AGBL4
 
sanders_11_ASD_discovery_controls-12407.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CYP4X1
 
sanders_11_ASD_discovery_controls-12407.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AGBL4-IT1,AGBL4
 
sanders_11_ASD_discovery_controls-12494.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP4X1
 
sanders_11_ASD_discovery_controls-12619.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP4X1
 
sanders_11_ASD_discovery_controls-12667.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AGBL4-IT1,AGBL4
 
sanders_11_ASD_discovery_controls-12867.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP4Z2P,CYP4A11
 
sanders_11_ASD_discovery_controls-12939.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FOXE3
 
sanders_11_ASD_discovery_controls-13083.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FOXD2-AS1,FOXD2
 
sanders_11_ASD_discovery_controls-13174.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF859P,AGBL4
 

No Animal Model Data Available
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