geno logo
     HELP     Sign In

Quick Links

TOOLS

9p21.3CNV Type: Deletion-Duplication


Largest CNV size: 163846 bp

Statistics Box:
Number of Reports: 16


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.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 798000
 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
 236598
 19
 2
 21
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 153887
 2
 0
 2
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 37422
 1
 0
 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
 2757057
 3
 1
 4
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 12860
 1
 0
 1
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 3925264
 0
 1
 1
 kushima_22_SCZ_discovery_cases
 Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
 3014
 Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 45 yrs.
 53.5% Male
 3925265
 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
 
 
 121174
 2
 0
 2
 mohamed_21_DD/ID_discovery_cases
  NA NA
 Individuals referred to the National Research Centre (Cairo, Egypt) with chromsome 9p terminal deletions (initially identified by karyotyping) who had additional aCGH evaluation to identify the precise extent of the deletion.
 6
 All individuals presented with developmental delay and intellectual disability; four individuals also presented with autistic behavior.
 Range, 5 mos.-9 yrs.
 33.33% Male
 1117348
 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
 
 
 163846
 3
 0
 3
 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
 110477
 4
 3
 7
 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
 45451
 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
 90127
 117
 9
 126
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 20003
 1
 0
 1
 wang_10_ASD_discovery_cases
 ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
 103
 ASD (according to DSM-IV criteria)
 Mean, 21.5 10.3
 78.6% Male
 602000
 0
 0
 0
 wang_18_TS_replication_cases
 Probands from 120 trio families not previously screened by whole-exome sequencing in the discovery cohort
 120
 Probands diagnosed with Tourette syndrome
 N/A
 N/A
 91390
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 798331
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 417992
 22
 6
 28
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 110685
 1
 0
 1
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 kushima_22_ASD/BPD/SCZ_discovery_controls
 Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
 2671
 Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
 Median age, 36 yrs.
 47.8% Male
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 115886
 2
 0
 2
 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)
 504167
 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)
 110477
 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.
 
 193365
 83
 2
 85
 wang_10_ASD_discovery_controls
 Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
 203
 Controls
 Mean, 32.5 8.06
 71.9% Male
 602000
 0
 1
 1
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 798331
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 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
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 kushima_22_SCZ_discovery_cases
  Japan
 aCGH
  NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
 Fast Adaptive States Segmentation Technique 2
 BioDiscovery Nexus Copy Number v.9.0
 qRT-PCR
 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
 mohamed_21_DD/ID_discovery_cases
  Egypt
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 NA
 Affymetrix ChAS
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 vaags_11_ASD_discovery_cases
  Canadian
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
 
 
 None
 wang_10_ASD_discovery_cases
  Croatian
 Solid phase hybridization
  Illumina HumanHap550 BeadChip
 PennCNV
 BeadStudio
 None
 wang_18_TS_replication_cases
  N/A
 Exome Array
  Illumina HumanOmniExpressExome-8 v.1
 PennCNV
 Illumina GenomeStudio, PennCNV
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  kushima_22_ASD/BPD/SCZ_discovery_controls
  Japan
  aCGH
  NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
  Fast Adaptive States Segmentation Technique 2
  BioDiscovery Nexus Copy Number v.9.0
  qRT-PCR
  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
 
  qPCR
  wang_10_ASD_discovery_controls
  Croatian
  Solid phase hybridization
  Illumina HumanHap550 BeadChip
  PennCNV
  BeadStudio
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  chen_17_ASD_discovery_cases-caseU-1511
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 27 (past score 29); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score 12 (past score 14); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 6); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 89; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 43. Epilepsy: no history of epilepsy.
 Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
 22190563
 22988893
  798331
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case1165_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23103267
 23267113
  163847
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13047_563
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24662560
 24715100
  52541
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13055_653
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22366890
 22502852
  135963
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14089_1530
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22496641
 22733239
  236599
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14161_2640
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25263762
 25359871
  96110
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14162_2660
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25263762
 25352329
  88568
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14173_2800
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25263762
 25352329
  88568
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14174_2810
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25237817
 25353889
  116073
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14191_3150
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20016260
 20064976
  48717
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14242_3660
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25256656
 25352329
  95674
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14310_4270
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25263762
 25352329
  88568
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14342_4560
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22894795
 23031512
  136718
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14395_5040
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25263762
 25352329
  88568
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2257_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22508808
 22564669
  55862
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3210_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23083300
 23178738
  95439
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4238_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24457293
 24515113
  57821
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4393_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24645078
 24826158
  181081
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5132_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25263762
 25352329
  88568
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5330_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25271478
 25316442
  44965
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5415_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24440665
 24515113
  74449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5515_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25263762
 25352329
  88568
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1031302
 
 
 Autism
 
 
 24868417
 25022303
  153887
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1031303
 
 
 Autism
 
 
 24868417
 25022303
  153887
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU082804
 
 
 Autism
 
 
 20658315
 20695736
  37422
 Unknown
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001012
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21708372
 22537070
  828699
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001933
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20380587
 20478578
  97992
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002397
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21985058
 22809677
  824620
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21082471
 23839529
  2757059
 GRCh38
 Deletion
 Yes
  kanduri_15_ASD_discovery_cases-case1518
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 24133577
 24146436
  12860
 Unknown
 Deletion
 No
  kushima_18_SCZ_discovery_cases-caseSCZ1956
 12 yrs.
 F
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 20655425
 24580688
  3925264
 GRCh38
 Duplication
 N/A
  kushima_22_SCZ_discovery_cases-caseSCZ1956
 NA
 NA
 Schizophrenia
 Diagnosis of schizophrenia according to DSM-5 criteria.
 
 20655424
 24580688
  3925265
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0148-005
 NA
 F
 ASD
 NA
 NA
 24617038
 24692116
  75079
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0278-003
 NA
 M
 ASD
 NA
 NA
 22636542
 22757715
  121174
 GRCh38
 Deletion
 Yes
  mohamed_21_DD/ID_discovery_cases-case1
  NA NA
 5 mos.
 M
 Developmental delay, intellectual disability, and autistic behavior
 Developmental milestones: developmental delay (DQ 48%). Motor and musculoskeletal evaluation: global hypotonia, long tapering fingers/toes, clinodactyly, narrow flat feet, talipes. Behavioral/psychiatric evaluation: autistic behavior. Brain imaging: hypoplasia on the corpus callosum. Additional medical history: patent ductus arteriosus, inguinal hernia, constipation, frequent infections. Dysmorphic features: trigonocephaly/prominent metopic suture, flat occiput, upslanting palpebral fissures, arched/bushy eyebrows, hypertelorism, epicanthus, midface hypoplasia, flat nasal bridge, anteverted nares, long flat philtrum, low-set and posteriorly rotated ears, micrognathia, microstomia, short neck, widely spaced nipples, fair hair. Growth parameters: weight mean, height -0.5 SD, head circumference -0.5 SD.
 Intellectual disability
 23480774
 24598121
  1117348
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1165_3
 NA
 M
 Autism
 Non verbal, poor suck at birth, floppy infant, gastrointestinal problems
 MR
 23103267
 23267113
  163847
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5132_3
 NA
 M
 ASD
 NA
 NA
 25263762
 25352329
  88568
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5515_3
 NA
 M
 ASD
 NA
 NA
 25263762
 25352329
  88568
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case100678L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 24619968
 24684952
  64985
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case125391
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 21244959
 21274220
  29262
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case144127
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 21422679
 21434988
  12310
 Unknown
 Deletion
 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
 
 21250172
 21268145
  17974
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case69354
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 21250172
 21268145
  17974
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case74431
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 22638251
 22748727
  110477
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case88253
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 20743827
 20756903
  13077
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
 Developmental delay: yes. Intellectual disability: N/A.
 20604462
 20649912
  45451
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11004.p1
 15.8
 M
 ASD
 NA
 Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11011.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11013.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 132; non-verbal IQ, 137; verbal IQ, 119
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11023.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 110; verbal IQ, 110
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11048.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11060.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11069.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11077.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11083.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
 25336449
 25367088
  30640
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11094.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 86
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11120.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 128
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11165.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
 22822674
 22847962
  25289
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11172.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11202.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
 23291528
 23299211
  7684
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11216.p1
 4.7
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
 25285613
 25296603
  10991
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11232.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11258.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11301.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11303.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 110; verbal IQ, 102
 24502739
 24520635
  17897
 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
 25263762
 25353889
  90128
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11334.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
 24502739
 24520196
  17458
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11360.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11363.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11370.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11415.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11429.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11432.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11464.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11468.p1
 10.7
 M
 Aspergers
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11472.p1
 13.7
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11489.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11505.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
 21194380
 21205371
  10992
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11571.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
 24502739
 24515113
  12375
 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
 21194380
 21226833
  32454
 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
 24797364
 24805163
  7800
 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
 24502739
 24515113
  12375
 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
 20194149
 20282324
  88176
 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
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11654.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 47
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11666.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
 24511920
 24515113
  3194
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11681.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11696.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11776.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 51; verbal IQ, 76
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11793.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 129
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11798.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 113
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11812.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 67; verbal IQ, 77
 24511920
 24515113
  3194
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11855.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11860.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
 22383817
 22431173
  47357
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11895.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 79
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11920.p1
 10.8
 M
 Aspergers
 NA
 Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
 25263762
 25352329
  88568
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11947.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11978.p1
 9.1
 F
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12008.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12009.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12015.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12048.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12070.p1
 14.4
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12072.p1
 15.6
 F
 Autism
 NA
 Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12074.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
 24502739
 24520635
  17897
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12161.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12175.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
 24502739
 24515113
  12375
 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
 25095134
 25096006
  873
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12231.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43
 25285613
 25296603
  10991
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12239.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12250.p1
 10.8
 F
 Aspergers
 NA
 Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12264.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12312.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12315.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12335.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
 24502739
 24520196
  17458
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12341.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
 24502739
 24515113
  12375
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12346.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12354.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12378.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 84; verbal IQ, 81
 24502739
 24520635
  17897
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12418.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12426.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12429.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12429.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
 21263220
 21276892
  13673
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12477.p1
 14.1
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12494.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
 22499959
 22510755
  10797
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12505.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12515.p1
 6.3
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12521.p1
 7.2
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12532.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12534.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12579.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12595.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 122; verbal IQ, 108
 20095105
 20102163
  7059
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12604.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12616.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12634.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
 24502739
 24520196
  17458
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12703.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 58; verbal IQ, 61
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12761.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 109; verbal IQ, 89
 25263762
 25352203
  88442
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12788.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
 24502739
 24520196
  17458
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12817.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12836.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12852.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 83
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12869.p1
 5.2
 F
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12888.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
 25285613
 25297535
  11923
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12924.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12976.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13021.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
 25263762
 25352329
  88568
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13036.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13042.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
 24511920
 24515113
  3194
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 24502739
 24520196
  17458
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13104.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 24502739
 24522871
  20133
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13222.p1
 17.1
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
 25263762
 25352693
  88932
 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
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13323.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
 24502739
 24515113
  12375
 GRCh38
 Deletion
 No
  vaags_11_ASD_discovery_cases-probandF1-003
 16 yrs. 7 mos.
 M
 Asperger syndrome
 Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
 Leiter-R IQ: 119 (92nd %ile)
 24497682
 24517684
  20003
 GRCh38
 Deletion
 No
  wang_18_TS_replication_cases-case9345411116_R01C01
 N/A
 N/A
 Tourette syndrome
 No additional clinical information available
 
 21163762
 21255151
  91390
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case345
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 22190563
 22988893
  798331
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036021087_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22404682
  22822674
  417993
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036021608_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25256656
  25352329
  95674
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036023653_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23163809
  23231698
  67890
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB170205_1007854723
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25263762
  25353889
  90128
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB283019_1007841439
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25263762
  25352329
  88568
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB473026_1007872207
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25233403
  25352329
  118927
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB519374_1007852901
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25263762
  25352329
  88568
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB551574_1007873713
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24467429
  24553610
  86182
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB557049_1007853857
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25313541
  25396791
  83251
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB561892_1007853627
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25263762
  25353889
  90128
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB701762_1007873488
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24407066
  24515113
  108048
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB714366_1007851282
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24440665
  24515113
  74449
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB811881_1007870375
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23940422
  24007753
  67332
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB916240_1007854325
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20016260
  20068520
  52261
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21026541
  21061643
  35103
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900059_900059
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21728684
  22017551
  288868
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900347_900347
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25263762
  25352329
  88568
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24645078
  24733228
  88151
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900464_900464
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21626574
  21667763
  41190
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900933_900933
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24956625
  25049867
  93243
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24514392
  24547246
  32855
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901113_901113
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20660859
  20705737
  44879
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25256656
  25522089
  265434
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25263762
  25352203
  88442
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902573_902573
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21409902
  21557407
  147506
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902645_902645
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21215327
  21267833
  52507
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902653_902653
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24983980
  25116676
  132697
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22962119
  23003006
  40888
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1519
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  22784110
  22894794
  110685
  Unknown
  Deletion
  No
  levy_11_ASD_discovery_controls-11307.s1
  NA
  M
  Control
  NA
  NA
  21479968
  21595853
  115886
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11868.s1
  NA
  F
  Control
  NA
  NA
  23649428
  23683147
  33720
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C31170A
  N/A
  F
  Control
  NIMH Control (NIMH ID 59702)
 
  21008019
  21512185
  504167
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11004.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11009.s1
  7.6
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11011.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11013.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11023.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11047.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11057.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11069.s1
  7.4
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11083.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11094.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  24645078
  24838443
  193366
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11120.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11172.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11189.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  25263762
  25352329
  88568
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11195.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11205.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  21194380
  21205371
  10992
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11.9
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11246.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11298.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24520196
  17458
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11303.s1
  4.5
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11307.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  21480574
  21601759
  121186
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11321.s1
  15.2
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11367.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  24498327
  24528894
  30568
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11390.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  24498327
  24520635
  22309
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11415.s1
  13.6
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11432.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11439.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11453.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11472.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  24498327
  24515113
  16787
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11499.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11504.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11530.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  24498327
  24515113
  16787
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11544.s1
  17.7
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11546.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11549.s1
  21.9
  F
  Control (matched sibling)
  NA
  NA
  24332123
  24335843
  3721
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11573.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  21187701
  21228183
  40483
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11653.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24520196
  17458
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11696.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11798.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  24498327
  24515113
  16787
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11812.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11835.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  23291528
  23299211
  7684
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11868.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  23651431
  23681363
  29933
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11895.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11909.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11962.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11964.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12011.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12015.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12053.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12161.s1
  7.7
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12173.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12239.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12250.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12252.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12317.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  24754537
  24758488
  3952
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12323.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  23910968
  23912408
  1441
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12325.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  24498327
  24520196
  21870
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12331.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12335.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24520196
  17458
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12341.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12346.s1
  15
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12360.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12378.s1
  4.4
  M
  Control (matched sibling)
  NA
  NA
  24498327
  24515113
  16787
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12478.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12515.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12532.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12534.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12548.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12579.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12621.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  25285613
  25297535
  11923
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12669.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12743.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12787.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12788.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12838.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  25263762
  25352693
  88932
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12944.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12964.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  20379886
  20417955
  38070
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12977.s1
  5.3
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12989.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  20379886
  20417955
  38070
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13036.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13051.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  23067871
  23073405
  5535
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13104.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13169.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  24502739
  24515113
  12375
  GRCh38
  Deletion
  No
  wang_10_ASD_discovery_controls-Aut54
  27
  M
  Control
  NA
  NA
  22944928
  23546463
  601536
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chen_17_ASD_discovery_cases-caseU-1511
 RT-qPCR
 
 Paternal
 
 
 DMRTA1,CLIC4P1,LINC01239
 
 engchuan_15_ASD_discovery_cases-case1165_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13047_563
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case13055_653
 
 
 Unknown
 
 
 DMRTA1
 
 engchuan_15_ASD_discovery_cases-case14089_1530
 
 
 Unknown
 
 
 LINC01239
 
 engchuan_15_ASD_discovery_cases-case14161_2640
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14162_2660
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14173_2800
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14174_2810
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14191_3150
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14242_3660
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14310_4270
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14342_4560
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14395_5040
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case2257_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3210_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4238_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4393_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5132_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5330_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5415_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5515_3
 
 
 Unknown
 
 
 
 
 gai_11_ASD_discovery_cases-AU1031302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1031303
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU082804
 
 
 Inherited
 
 
 KIAA1797
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001012
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,DMRTA1,CDKN2A,CDKN2B,MTAP,CDKN2B-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001933
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR4473,RNU4-26P,MLLT3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002397
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 UBA52P6,DMRTA1,CLIC4P1,CDKN2A,CDKN2B,LINC01239,CDKN2B-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,KHSRPP1,RN7SL151P,TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,DMRTA1,CLIC4P1,SUMO2P2,NOP56P2,IFNA16,KLHL9,CDKN2A,CDKN2B,MIR31HG,MTAP,LINC01239,ELAVL2,CDKN2B-AS1
 
 kanduri_15_ASD_discovery_cases-case1518
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, ELAVL2(dist=307514),IZUMO3(dist=396777)
 
 kushima_18_SCZ_discovery_cases-caseSCZ1956
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 FOCAD-AS1,MIR491,SNORA30B,IFNNP1,IFNB1,IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,KHSRPP1,RN7SL151P,TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,DMRTA1,CLIC4P1,SUMO2P2,NOP56P2,HACD4,IFNA16,KLHL9,CDKN2A,CDKN2B,IZUMO3,MIR31HG,MTAP,LINC01239,ELAVL2,FOCAD,CDKN2B-AS1
 
 kushima_22_SCZ_discovery_cases-caseSCZ1956
 qRT-PCR
 
 Unknown
 
 
 CDKN2A,CDKN2B,ELAVL2,CDKN2A-DT,FOCAD,KLHL9,DMRTA1,IFNA12P,IFNA7,IFNA11P,IFNA8,IFNA1,IFNA5,IFNA2,IFNWP4,IFNA4,IFNWP19,IFNA10,IFNW1,IFNA13,IFNA14,IFNB1,IFNA6,IFNA17,IFNA21,IFNA16,IFNA20P,IFNA22P,IFNE,IFNWP18,IFNWP5,LINC01239,NOP56P2,KHSRPP1,MIR31,HACD4,MIR31HG,MIR491,IFNWP2,CLIC4P1,IFNNP1,CDKN2B-AS1,IFNWP9,IFNWP15,UBA52P6,IZUMO3,MTAP,TUBB8P1,ERVFRD-3,SUMO2P2,FOCAD-AS1,RN7SL151P,SNORA30B,H3P30
 
 marshall_08_ASD_discovery_cases-SK0148-005
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 
 
 marshall_08_ASD_discovery_cases-SK0278-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 CLIC4P1,LINC01239
 
 mohamed_21_DD/ID_discovery_cases-case1
 
 
 Unknown
 
 
 ELAVL2,NOP56P2,IZUMO3,SUMO2P2
 
 pinto_10_ASD_discovery_cases-case1165_3
 Illumina550;Affy5.0
 
 paternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5132_3
 Agilent1M
 
 paternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5515_3
 Agilent1M
 
 paternal
 NA
 NA
 
 
 prasad_12_ASD_discovery_cases-case100678L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case125391
 
 
 Unknown
 Unknown
 Unknown
 IFNA22P
 
 prasad_12_ASD_discovery_cases-case144127
 
 
 Unknown
 Unknown
 Unknown
 IFNA1
 
 prasad_12_ASD_discovery_cases-case55360
 
 
 Unknown
 Unknown
 Unknown
 IFNA22P
 
 prasad_12_ASD_discovery_cases-case69354
 
 
 Unknown
 Unknown
 Unknown
 IFNA22P
 
 prasad_12_ASD_discovery_cases-case74431
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case88253
 
 
 Unknown
 Unknown
 Unknown
 KIAA1797
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 MLLT3
 
 sanders_11_ASD_discovery_cases-11004.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11011.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11013.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11023.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11057.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11060.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11069.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11077.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11083.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11094.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11120.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11165.p1
 
 
 Maternal
 Simplex (trio)
 NA
 LINC01239
 
 sanders_11_ASD_discovery_cases-11172.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11202.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11216.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11232.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11258.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11276.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11301.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11303.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11334.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11360.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11363.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11370.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11415.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11429.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11432.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11464.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11468.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11472.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11489.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11505.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 IFNA7
 
 sanders_11_ASD_discovery_cases-11516.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11571.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11573.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 IFNA7,IFNA10,IFNWP18,IFNA16
 
 sanders_11_ASD_discovery_cases-11611.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11622.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11622.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11625.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11642.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11654.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11666.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11681.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11694.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11696.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11776.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11782.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11793.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11798.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11812.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11855.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11860.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11895.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11920.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11947.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11978.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12008.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12009.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12015.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12070.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12072.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12074.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12161.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12173.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12175.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12210.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12231.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12239.p1
 
 
 Maternal
 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-12250.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12264.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12312.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12315.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12325.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12331.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12335.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12341.p1
 
 
 Both parents
 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-12346.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12354.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12378.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12418.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12426.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12429.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12429.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12477.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12494.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12505.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12515.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12521.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12532.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12579.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12595.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12604.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12616.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12634.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12703.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12761.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12788.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12817.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12836.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12852.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12869.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12888.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12924.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12944.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12976.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13021.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13036.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13042.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13104.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13244.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13323.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 
 
 wang_18_TS_replication_cases-case9345411116_R01C01
 Validation failed
 
 De novo
 
 
 IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA16
 
 yin_16_ASD_discovery_cases-case345
 
 
 Unknown
 Unknown
 Unknown
 DMRTA1,CLIC4P1,LINC01239
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036021087_
 
 
  Unknown
 
 
  DMRTA1,CLIC4P1,LINC01239
 
engchuan_15_ASD_discovery_controls-control110036021608_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036023653_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB170205_1007854723
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB283019_1007841439
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB473026_1007872207
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB519374_1007852901
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB551574_1007873713
 
 
  Unknown
 
 
  IZUMO3
 
engchuan_15_ASD_discovery_controls-controlB557049_1007853857
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB701762_1007873488
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB714366_1007851282
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB916240_1007854325
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
 
 
  Unknown
 
 
  IFNNP1,HACD4
 
engchuan_15_ASD_discovery_controls-controlHABC_900059_900059
 
 
  Unknown
 
 
  TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,CDKN2A,CDKN2B,MTAP,CDKN2B-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900347_900347
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900378_900378
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900464_900464
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900933_900933
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901063_901063
 
 
  Unknown
 
 
  IZUMO3
 
engchuan_15_ASD_discovery_controls-controlHABC_901113_901113
 
 
  Unknown
 
 
  FOCAD-AS1,FOCAD
 
engchuan_15_ASD_discovery_controls-controlHABC_901183_901183
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902573_902573
 
 
  Unknown
 
 
  IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,MIR31HG
 
engchuan_15_ASD_discovery_controls-controlHABC_902645_902645
 
 
  Unknown
 
 
  IFNA17,IFNWP5,IFNA14,IFNA16
 
engchuan_15_ASD_discovery_controls-controlHABC_902653_902653
 
 
  Unknown
 
 
  RN7SKP120
 
engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split1519
 
 
  Unknown
 
 
  FLJ35282 (non-coding RNA, exonic)
 
levy_11_ASD_discovery_controls-11307.s1
 
 
  Paternal
  Simplex
  NA
  IFNE,MIR31,MIR31HG
 
levy_11_ASD_discovery_controls-11868.s1
 
 
  De novo
  Simplex
  NA
  NOP56P2
 
poultney_13_ASD_discovery_controls-control04C31170A
 
 
  Unknown
 
 
  IFNNP1,IFNB1,IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,HACD4,IFNA16,KLHL9,MIR31HG
 
sanders_11_ASD_discovery_controls-11004.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11009.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11011.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11013.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11023.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11047.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11057.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11069.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11083.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11094.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11120.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11172.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11189.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11195.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11205.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IFNA7
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11246.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11298.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11303.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11307.s1
 
 
  Paternal
  Simplex (quad)
  NA
  IFNE,MIR31,MIR31HG
 
sanders_11_ASD_discovery_controls-11321.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11367.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11390.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11415.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11432.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11439.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11453.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11472.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11499.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11504.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11530.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11544.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11546.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11549.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11573.s1
 
 
  Paternal
  Simplex (quad)
  NA
  IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNA16
 
sanders_11_ASD_discovery_controls-11653.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11696.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11798.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11812.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11835.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11868.s1
  qPCR
 
  De Novo
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11895.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11909.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11962.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11964.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12011.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12015.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12053.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12161.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12173.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12239.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12250.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12252.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12317.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12323.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12325.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12331.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12335.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12341.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12346.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12360.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12378.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12478.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12515.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12532.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12534.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12548.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12579.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12621.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12669.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12743.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12787.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12788.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12838.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12944.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12964.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MIR4473,MLLT3
 
sanders_11_ASD_discovery_controls-12977.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12989.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR4473,MLLT3
 
sanders_11_ASD_discovery_controls-13036.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13051.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-13169.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
wang_10_ASD_discovery_controls-Aut54
 
 
  Unknown
  NA
  NA
 
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.