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3p11.1CNV Type: Deletion-Duplication


Largest CNV size: 188598 bp

Statistics Box:
Number of Reports: 10



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
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...
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 25000
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 127145
 4
 0
 4
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 927000
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 756401
 0
 1
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 500000
 0
 1
 1
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 24790
 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
 
 
 14724
 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
 188598
 38
 42
 80
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 185660
 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
 541
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 56842
 2
 0
 2
 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
 42095
 3
 0
 3
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 199617
 0
 1
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 371758
 0
 2
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 114898
 30
 23
 53
 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
 541
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 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
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 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)
 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
 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
  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
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  egger_14_ASD_discovery_cases-caseA130
 N/A
 N/A
 ASD
 Clinical profile N/A.
 
 89345442
 89371338
  25897
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16030_1571003001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 89308921
 89368021
  59101
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1946_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 89340357
 89467502
  127146
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3088_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 89353297
 89387645
  34349
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6323_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 89621206
 89746749
  125544
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13944.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 89328160
 90258160
  930001
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004524
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 89499290
 90255691
  756402
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU072905
 N/A
 M
 ASD
 
 
 89855850
 90378850
  523001
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 89345442
 89370231
  24790
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case2232_1
 NA
 M
 Autism
 Language delay, overall nondysmorphic appearance, macrocephalic, wide nasal bridge, partial transverse palmar crease on left hand, leaky gut, numerous food allergies, wears glasses for mild hypermetropia, no epilepsy, normal brain MRI
 Mild MR
 89485137
 89499861
  14724
 Unknown
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11011.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
 90227361
 90331937
  104577
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11097.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11124.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
 89340357
 89372989
  32633
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11144.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11179.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
 90289369
 90444732
  155364
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11184.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
 89620432
 89626720
  6289
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 89621206
 89626720
  5515
 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
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11347.p1
 15.7
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11352.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11367.p1
 7.6
 M
 Aspergers
 NA
 Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11375.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
 89620432
 89626720
  6289
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11381.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11393.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11445.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
 90227361
 90331937
  104577
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11472.p1
 13.7
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
 89620432
 89626720
  6289
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11491.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
 89620432
 89626720
  6289
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11511.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
 90264244
 90331937
  67694
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11555.p1
 9.1
 F
 Aspergers
 NA
 Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
 89620432
 89626720
  6289
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11601.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11657.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
 90368610
 90455495
  86886
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11835.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11911.p1
 9.9
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11993.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 73
 89621206
 89626720
  5515
 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
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12050.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12066.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12068.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
 90259073
 90331937
  72865
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12100.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12103.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
 90354355
 90455495
  101141
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12173.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
 90368610
 90438204
  69595
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12194.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
 90418675
 90455495
  36821
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12206.p1
 17.1
 M
 Aspergers
 NA
 Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12229.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
 90351681
 90354355
  2675
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12250.p1
 10.8
 F
 Aspergers
 NA
 Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12250.p1
 10.8
 F
 Aspergers
 NA
 Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12275.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12286.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 90354355
 90455495
  101141
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12299.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12347.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12367.p1
 9.4
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
 89621206
 89626720
  5515
 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
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12404.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12420.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12456.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 89621206
 89626720
  5515
 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
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12548.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
 90389324
 90444732
  55409
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12561.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12578.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 81
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12621.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 96
 90418675
 90455495
  36821
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12690.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
 90289369
 90455495
  166127
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12832.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12837.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12838.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12843.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
 90368610
 90455495
  86886
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12851.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12956.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12972.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
 90353408
 90455495
  102088
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12972.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
 90289369
 90351681
  62313
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12984.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12989.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12997.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13005.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13006.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 89558151
 89746749
  188599
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13015.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13038.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13041.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13043.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 127; verbal IQ, 111
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13050.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 93; verbal IQ, 108
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13057.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 118; verbal IQ, 87
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13063.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
 89621206
 89626720
  5515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 90403492
 90444732
  41241
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13095.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
 90331937
 90354355
  22419
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 90403492
 90455495
  52004
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13266.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
 90403492
 90455495
  52004
 GRCh38
 Duplication
 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)
 90259073
 90444732
  185660
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case117
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 89370219
 89370759
  541
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036019115_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89330785
  89368021
  37237
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89621206
  89678048
  56843
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1532
  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
 
  90400831
  90442925
  42095
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1552
  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
 
  89670356
  89675870
  5515
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1803
  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
 
  89670356
  89675870
  5515
  Unknown
  Deletion
  No
  nord_11_ASD_discovery_controls-04C26625
 
 
  Control
 
 
  90034952
  90234568
  199617
  Unknown
  Duplication
 
  poultney_13_ASD_discovery_controls-control05C41778
  N/A
  M
  Control
  NIMH Control (NIMH ID 47544)
 
  89127207
  89413268
  286062
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C41920
  N/A
  M
  Control
  NIMH Control (NIMH ID 55831)
 
  89107747
  89479504
  371758
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11064.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  89620432
  89626720
  6289
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11141.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  89558151
  89667416
  109266
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11144.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  89620432
  89626720
  6289
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11150.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  90227361
  90331937
  104577
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11184.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11220.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11352.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11367.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  89326283
  89376882
  50600
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11375.s1
  4.6
  F
  Control (matched sibling)
  NA
  NA
  89620432
  89636914
  16483
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11429.s1
  18.6
  M
  Control (matched sibling)
  NA
  NA
  89620432
  89626720
  6289
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11472.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11538.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  90418675
  90455495
  36821
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11564.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11575.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  89485227
  89500272
  15046
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11722.s1
  9.8
  M
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  89555624
  89667416
  111793
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11843.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11916.s1
  6.9
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11935.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  90351681
  90455495
  103815
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11993.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  89620432
  89626720
  6289
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12115.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12250.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12250.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  90389324
  90455495
  66172
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12275.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  90389324
  90455495
  66172
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12373.s1
  11.7
  F
  Control (matched sibling)
  NA
  NA
  89620432
  89729486
  109055
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12375.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12409.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12430.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12456.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  89620432
  89626720
  6289
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12532.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12541.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12578.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  89624990
  89626720
  1731
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12623.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  90340597
  90455495
  114899
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12641.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  90204014
  90264244
  60231
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12650.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  90389324
  90455495
  66172
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12656.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  90351681
  90455495
  103815
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12704.s1
  6.4
  F
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  90351681
  90455495
  103815
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12788.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  90289369
  90315787
  26419
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12790.s1
  8.9
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12879.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12892.s1
  15.4
  F
  Control (matched sibling)
  NA
  NA
  90418675
  90455495
  36821
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12944.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12972.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  90289369
  90368610
  79242
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12984.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12989.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  90403492
  90455495
  52004
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13016.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  90389324
  90455495
  66172
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13036.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13057.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  89621206
  89626720
  5515
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  90023258
  90061871
  38614
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 egger_14_ASD_discovery_cases-caseA130
 
 
 Unknown
 
 Unknown
 EPHA3
 
 engchuan_15_ASD_discovery_cases-case16030_1571003001
 
 
 Unknown
 
 
 EPHA3
 
 engchuan_15_ASD_discovery_cases-case1946_301
 
 
 Unknown
 
 
 EPHA3
 
 engchuan_15_ASD_discovery_cases-case3088_3
 
 
 Unknown
 
 
 EPHA3
 
 engchuan_15_ASD_discovery_cases-case6323_3
 
 
 Unknown
 
 
 
 
 girirajan_13a_ASD_discovery_cases-13944.p1
 
 
 Unknown
 Simplex
 Unknown
 MTCO2P6,MTCO1P6,RNU6-712P,PROS2P,EPHA3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004524
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MTCO2P6,MTCO1P6,RNU6-712P,PROS2P
 
 leppa_16_ASD_discovery_cases-AU072905
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 RNU6-712P,HSPE1P19,PROS2P
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 EPHA3
 
 pinto_10_ASD_discovery_cases-case2232_1
 qPCR, Affymetrix 6.0
 
 Both parents
 NA
 NA
 EPHA3 intronic
 
 sanders_11_ASD_discovery_cases-11011.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 HSPE1P19,PROS2P
 
 sanders_11_ASD_discovery_cases-11097.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11124.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 EPHA3
 
 sanders_11_ASD_discovery_cases-11144.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11179.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11184.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11220.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-11347.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11352.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11367.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11375.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11381.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11393.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11445.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 HSPE1P19,PROS2P
 
 sanders_11_ASD_discovery_cases-11472.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11491.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11511.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11555.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11601.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11657.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11835.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11911.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11993.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12009.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12050.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12066.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12068.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HSPE1P19
 
 sanders_11_ASD_discovery_cases-12100.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12103.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12173.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12194.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12206.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12229.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12250.p1
 
 
 Both parents
 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-12261.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12275.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12286.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12299.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12347.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12367.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12404.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12420.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12456.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12532.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12548.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12561.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12578.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12621.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12690.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12832.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12837.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12838.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12843.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12851.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-12956.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12972.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12972.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12984.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12989.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12997.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13005.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13006.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MTCO2P6,MTCO1P6
 
 sanders_11_ASD_discovery_cases-13015.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13038.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13041.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13043.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13050.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13057.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13063.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13095.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13266.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 vaags_11_ASD_discovery_cases-probandF1-003
 
 
 Unknown
 Simplex
 Unknown
 HSPE1P19
 
 yin_16_ASD_discovery_cases-case117
 
 
 Unknown
 Unknown
 Unknown
 EPHA3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019115_
 
 
  Unknown
 
 
  EPHA3
 
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split1532
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, EPHA3(dist=869547)
 
kanduri_15_ASD_discovery_controls-control_split1552
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, EPHA3(dist=139072)
 
kanduri_15_ASD_discovery_controls-control_split1803
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, EPHA3(dist=139072)
 
nord_11_ASD_discovery_controls-04C26625
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control05C41778
 
 
  Unknown
 
 
  EPHA3
 
poultney_13_ASD_discovery_controls-control05C41920
 
 
  Unknown
 
 
  EPHA3
 
sanders_11_ASD_discovery_controls-11064.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11141.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MTCO2P6,MTCO1P6
 
sanders_11_ASD_discovery_controls-11144.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11150.s1
 
 
  Unknown
  Simplex (quad)
  NA
  HSPE1P19,PROS2P
 
sanders_11_ASD_discovery_controls-11184.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11220.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11352.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11367.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EPHA3
 
sanders_11_ASD_discovery_controls-11375.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11429.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11472.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11538.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11564.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11575.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11722.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MTCO2P6,MTCO1P6
 
sanders_11_ASD_discovery_controls-11843.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11916.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11935.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11993.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12115.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12250.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12250.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12275.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12373.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12375.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12409.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12430.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12456.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12532.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12541.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12578.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12623.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12641.s1
 
 
  Paternal
  Simplex (quad)
  NA
  HSPE1P19,PROS2P
 
sanders_11_ASD_discovery_controls-12650.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12656.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12704.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12788.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12790.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12879.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12892.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12944.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12972.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12984.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12989.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13016.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13036.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13057.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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