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15q26.2CNV Type: Deletion-Duplication


Largest CNV size: 47790 bp

Statistics Box:
Number of Reports: 14


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
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
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
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.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 400759
 17
 1
 18
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 0
 1
 1
 hnoonual_17_ASD_discovery_cases
 Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
 114
 68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
 Range, 1-18 years (at time of recruitment)
 79.82% Male
 1470000
 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
 403762
 0
 1
 1
 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
 8974
 1
 0
 1
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 140355
 1
 0
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 75484
 0
 1
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 56297
 0
 1
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 33429
 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
 28647
 1
 1
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 47790
 116
 1
 117
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 576684
 0
 2
 2
 vaags_11_ASD_discovery_cases
 Discovery cohort of Canadian individuals with ASD
 1158
 ASD
 NA
 NA
 16478
 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
 20457
 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
 106904
 21
 0
 21
 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
 8974
 2
 0
 2
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 30883
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 29636
 0
 1
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 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)
 28647
 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.
 
 52963
 91
 1
 92
 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
 20457
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 hnoonual_17_ASD_discovery_cases
  Thai
 Solid phase hybridization
  Illumina Infinium CytoSNP-850K v1.1 BeadChip
 
 BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
 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
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 None
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 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
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  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
 
 
  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
  engchuan_15_ASD_discovery_cases-case1142_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1195_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13049_583
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97314802
  42323
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13203_2203
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97260534
 97311580
  51047
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2203_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3202_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97314802
  42323
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3448_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93804740
 94205499
  400760
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4043_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4138_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97316248
  43769
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4182_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97265179
 97314802
  49624
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4312_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 94237012
 94285237
  48226
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4378_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5262_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5408_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5526_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6161_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6319_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97272480
 97412834
  140355
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8719_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 94237012
 94285237
  48226
 GRCh38
 Deletion
 No
  gannon_11_ASD/DD_discovery_cases-patientQ
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Duplication
 No
  hnoonual_17_ASD_discovery_cases-caseTU29
 N/A
 F
 ASD and intellectual disability
 Facial dysmorphism ,seizures
 Intellectual disability
 94505294
 95976568
  1471275
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005283
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 94227611
 94631373
  403763
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1493
 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.
 
 97815710
 97824683
  8974
 Unknown
 Deletion
 No
  leblond_12_ASD_replication_cases-Pintocase6319_3
 NA
 M
 PDD-NOS
 ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
 Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
 97272480
 97412834
  140355
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case123604
 N/A
 M
 DCD/ADHD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis ADHD; sibling diagnosis unaffected.
 
 97296513
 97371996
  75484
 GRCh38
 Duplication
 No
  nord_11_ASD_discovery_cases-261-1
 
 
 ASD
 
 
 94450076
 94506372
  56297
 Unknown
 Duplication
 No
  pinto_10_ASD_discovery_cases-case5262_4
 NA
 M
 Autism
 Anxiety symptoms, below average language (<1%ile), cleft palate, congenital diaphragmatic hernia, epilepsy, recurrent ear infections, short stature, alopecia in left parietal area, hypertelorism, epicanthic folds, small ears with curved pinnae, smooth philtrum, 5th finger clinodactyly, hyperextensibility, scoliosis; 16p11.2 microdeletion syndrome
 Below average nonverbal IQ (4%ile)
 97272480
 97305908
  33429
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5408_3
 NA
 M
 ASD
 NA
 NA
 97272480
 97305908
  33429
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5526_3
 NA
 M
 ASD
 NA
 NA
 97272480
 97305908
  33429
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case107437
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 93668803
 93697449
  28647
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case65690
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 92191644
 92205478
  13835
 Unknown
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11006.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11012.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11017.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
 97495375
 97501266
  5892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11025.p1
 4.6
 F
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11074.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 75; verbal IQ, 58
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11091.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 111; verbal IQ, 136
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11094.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 86
 97277845
 97288957
  11113
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11096.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11109.p1
 4.5
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ 71
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11117.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11141.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11190.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11195.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 93; verbal IQ, 86
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11196.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11205.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 61
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11212.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
 97272480
 97305908
  33429
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11234.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 115
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11242.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11251.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11291.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 99
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11305.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11309.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11323.p1
 8.6
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11349.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11391.p1
 15.2
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11400.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11404.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 82
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11425.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11453.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11470.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 76
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11471.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 89; verbal IQ, 31
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11476.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11490.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 101; verbal IQ, 57
 97264502
 97296297
  31796
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11544.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11581.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11597.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11604.p1
 17.2
 F
 Autism
 NA
 Full-scale IQ, 18; non-verbal IQ, 23; verbal IQ 13
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11620.p1
 16.5
 M
 ASD
 NA
 Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
 97277845
 97288957
  11113
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11627.p1
 5.7
 M
 ASD
 NA
 Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11659.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11775.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11788.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11881.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 90; verbal IQ, 89
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11883.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11938.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11939.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11970.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 150; non-verbal IQ, 159; verbal IQ, 130
 97265502
 97288957
  23456
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11981.p1
 6.6
 F
 Aspergers
 NA
 Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12010.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12014.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12020.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12053.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 90; verbal IQ, 71
 96718128
 96721268
  3141
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12076.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12078.p1
 9.2
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12108.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 63; verbal IQ, 74
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12121.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12154.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12160.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 108; verbal IQ, 86
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 95500541
 95503327
  2787
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12201.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12233.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12238.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
 97277845
 97288957
  11113
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12265.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
 95799890
 95801846
  1957
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12334.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12350.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12369.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12434.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12437.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 78; verbal IQ, 72
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12445.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12451.p1
 9.6
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
 96907016
 96954806
  47791
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12456.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12472.p1
 5.6
 F
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12483.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12510.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12566.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 43
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12581.p1
 12.4
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12591.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12629.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 113; verbal IQ, 101
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12640.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 118; verbal IQ, 99
 97265502
 97288957
  23456
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12645.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 84; verbal IQ, 94
 97272480
 97296297
  23818
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12651.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
 97265308
 97288957
  23650
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12656.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12664.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12685.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 99; verbal IQ, 102
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12708.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12748.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12757.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12782.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 76; verbal IQ, 77
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12787.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12925.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12955.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 66; verbal IQ, 67
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12977.p1
 8.2
 F
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12989.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13038.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
 97277845
 97288957
  11113
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13050.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 93; verbal IQ, 108
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13057.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 118; verbal IQ, 87
 97272480
 97288957
  16478
 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
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13324.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13337.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  stamouli_18_ASD/NDD_discovery_cases-family49_Twin_1
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
 
 94266531
 94843214
  576684
 GRCh38
 Duplication
 No
  stamouli_18_ASD/NDD_discovery_cases-family49_Twin_2
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
 
 94266531
 94843214
  576684
 GRCh38
 Duplication
 No
  vaags_11_ASD_discovery_cases-probandF2-003
 3 yrs. 5 mos.
 M
 Autism
 Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 97272480
 97288957
  16478
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case485
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 94300152
 94320608
  20457
 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-controlB201628_1007841172
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94237012
  94285237
  48226
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB251101_1007841959
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB309173_1007854770
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB355026_0067942568
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94237012
  94286396
  49385
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB414618_1007854093
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB467855_1007853980
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94237012
  94285237
  48226
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB483624_1007853685
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB490162_1007842249
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94237012
  94285237
  48226
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB534737_1007852659
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97265502
  97372406
  106905
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB542076_0067942602
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB611425_1007873622
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94237012
  94285237
  48226
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB653693_1007874607
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB741318_1007851257
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB748453_0067942589
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB801854_1007853969
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900026_900026
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97314802
  42323
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900045_900045
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900119_900119
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94237012
  94285237
  48226
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900734_900734
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94237012
  94285237
  48226
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
  N/A
  N/A
  Control
  No previous psychiatric history
 
  95873830
  95938127
  64298
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902820_902820
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94230757
  94286396
  55640
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split2103
  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
 
  97815710
  97824683
  8974
  Unknown
  Homozygous deletion
  No
  krumm_13_ASD_discovery_controls-control13197.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13197. SRS score of 42.
 
  94314281
  94345164
  30884
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control13197.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  94315528
  94345164
  29637
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11004.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11006.s1
  5.5
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11012.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  97277845
  97288957
  11113
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11048.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11057.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11074.s1
  7.3
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11088.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11096.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11117.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11124.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11141.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97305908
  33429
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11160.s1
  11.5
  M
  Control (matched sibling)
  NA
  NA
  97277845
  97288957
  11113
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11187.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11195.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11196.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11198.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11234.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11242.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11251.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11291.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11305.s1
  18.3
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11318.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11323.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11336.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  97367123
  97372406
  5284
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11357.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11391.s1
  18.1
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11404.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11439.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  95798620
  95801846
  3227
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11450.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11453.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11470.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11476.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97296297
  23818
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11479.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11489.s1
  15.8
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11498.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  94237012
  94288915
  51904
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11502.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11538.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11544.s1
  17.7
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8.9
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11581.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11620.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11627.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11645.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11715.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11872.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11883.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11911.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  97277845
  97288957
  11113
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11939.s1
  12.4
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  95500541
  95502652
  2112
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11954.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11981.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12014.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12020.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12053.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  96718128
  96721268
  3141
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12078.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12121.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12173.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12175.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12233.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12238.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12369.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12437.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12451.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  96903112
  96956075
  52964
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12456.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12462.s1
  20.8
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12469.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  95718661
  95731241
  12581
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12483.s1
  12.7
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12499.s1
  9.4
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12561.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12616.s1
  7.6
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12621.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12645.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12664.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12715.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12748.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12817.s1
  15.7
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12955.s1
  9.5
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12977.s1
  5.3
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12989.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12997.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13038.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13057.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13144.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13153.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13222.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  97272480
  97288957
  16478
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case1142_4
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case1195_4
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case13049_583
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case13203_2203
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case2203_1
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case3202_4
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case3448_3
 
 
 Unknown
 
 
 LINC02207,LINC01579,LINC01580,LINC01581
 
 engchuan_15_ASD_discovery_cases-case4043_1
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case4138_1
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case4182_1
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case4312_1
 
 
 Unknown
 
 
 MCTP2
 
 engchuan_15_ASD_discovery_cases-case4378_1
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case5262_4
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case5408_3
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case5526_3
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case6161_3
 
 
 Unknown
 
 
 LINC02253
 
 engchuan_15_ASD_discovery_cases-case6319_3
 
 
 Unknown
 
 
 RN7SL677P,LINC02253,LINC02254
 
 engchuan_15_ASD_discovery_cases-case8719_201
 
 
 Unknown
 
 
 MCTP2
 
 gannon_11_ASD/DD_discovery_cases-patientQ
 
 
 Unknown
 Unknown
 
 NA
 
 hnoonual_17_ASD_discovery_cases-caseTU29
 
 
 Maternal
 
 
 RNU2-3P,LINC01197,LINC00924
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005283
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MCTP2
 
 kanduri_15_ASD_discovery_cases-case1493
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, SPATA8(dist=486865),LINC00923(dist=461163)
 
 leblond_12_ASD_replication_cases-Pintocase6319_3
 
 
 Paternal
 
 
 RN7SL677P,LINC02253,LINC02254
 
 mosca_16_DCD_discovery_cases-case123604
 
 
 Unknown
 Multi-generational
 Unknown
 RN7SL677P,LINC02253,LINC02254
 
 nord_11_ASD_discovery_cases-261-1
 
 
 Paternal
 
 
 0 genes
 
 pinto_10_ASD_discovery_cases-case5262_4
 Agilent1M
 
 maternal
 Simplex
 NA
 LINC02253
 
 pinto_10_ASD_discovery_cases-case5408_3
 Agilent1M
 
 maternal
 NA
 NA
 LINC02253
 
 pinto_10_ASD_discovery_cases-case5526_3
 Agilent1M
 
 maternal
 NA
 NA
 LINC02253
 
 prasad_12_ASD_discovery_cases-case107437
 
 
 Unknown
 Unknown
 Unknown
 LOC400456
 
 prasad_12_ASD_discovery_cases-case65690
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11004.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11006.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11012.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11017.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02254
 
 sanders_11_ASD_discovery_cases-11025.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11039.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11048.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11074.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02253
 
 sanders_11_ASD_discovery_cases-11091.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11094.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11096.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11109.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11117.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11124.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11141.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11165.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11190.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11195.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11196.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11205.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11212.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02253
 
 sanders_11_ASD_discovery_cases-11234.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11242.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11251.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11291.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11305.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11309.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11323.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11349.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11391.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11400.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11404.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11425.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11453.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11470.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11471.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11476.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11490.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02253
 
 sanders_11_ASD_discovery_cases-11544.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11555.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11573.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11581.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11597.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11604.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11620.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11627.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11659.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11715.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11775.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11788.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11794.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11881.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11883.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11938.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11939.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11970.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11981.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11993.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12010.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12014.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12020.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12053.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12076.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12078.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12108.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12121.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12154.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12160.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12173.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC00924
 
 sanders_11_ASD_discovery_cases-12201.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12238.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12265.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12334.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12350.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12369.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12434.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12437.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12445.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12451.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12456.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12472.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12483.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12510.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12566.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12581.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12591.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12616.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12629.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12640.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12645.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02253
 
 sanders_11_ASD_discovery_cases-12651.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12656.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12664.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12685.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12708.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12715.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12748.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12757.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12782.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12787.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12817.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12869.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12925.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12955.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12977.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12989.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13038.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13050.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13057.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13222.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13324.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13337.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 stamouli_18_ASD/NDD_discovery_cases-family49_Twin_1
 
 
 Unknown
 Multiplex
 Segregated (CNV present in both affected twins)
 MCTP2
 
 stamouli_18_ASD/NDD_discovery_cases-family49_Twin_2
 
 
 Unknown
 Multiplex
 Segregated (CNV present in both affected twins)
 MCTP2
 
 vaags_11_ASD_discovery_cases-probandF2-003
 
 
 Unknown
 Multiplex
 Possibly segregated (present in affected sister, status in unaffected brother unknown)
 
 
 yin_16_ASD_discovery_cases-case485
 
 
 Unknown
 Unknown
 Unknown
 MCTP2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB201628_1007841172
 
 
  Unknown
 
 
  MCTP2
 
engchuan_15_ASD_discovery_controls-controlB251101_1007841959
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlB309173_1007854770
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlB355026_0067942568
 
 
  Unknown
 
 
  MCTP2
 
engchuan_15_ASD_discovery_controls-controlB414618_1007854093
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlB467855_1007853980
 
 
  Unknown
 
 
  MCTP2
 
engchuan_15_ASD_discovery_controls-controlB483624_1007853685
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlB490162_1007842249
 
 
  Unknown
 
 
  MCTP2
 
engchuan_15_ASD_discovery_controls-controlB534737_1007852659
 
 
  Unknown
 
 
  RN7SL677P,LINC02253,LINC02254
 
engchuan_15_ASD_discovery_controls-controlB542076_0067942602
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
 
 
  Unknown
 
 
  MCTP2
 
engchuan_15_ASD_discovery_controls-controlB653693_1007874607
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlB741318_1007851257
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlB748453_0067942589
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlB801854_1007853969
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlHABC_900026_900026
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlHABC_900045_900045
 
 
  Unknown
 
 
  LINC02253
 
engchuan_15_ASD_discovery_controls-controlHABC_900119_900119
 
 
  Unknown
 
 
  MCTP2
 
engchuan_15_ASD_discovery_controls-controlHABC_900734_900734
 
 
  Unknown
 
 
  MCTP2
 
engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902820_902820
 
 
  Unknown
 
 
  MCTP2
 
kanduri_15_ASD_discovery_controls-control_split2103
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SPATA8(dist=486865),LINC00923(dist=461163)
 
krumm_13_ASD_discovery_controls-control13197.s1
 
 
  Maternal
  Simplex
 
  MCTP2
 
krumm_15_ASD_discovery_controls-control13197.s1
  1M-Duov3
 
  Maternal
 
 
  MCTP2
 
sanders_11_ASD_discovery_controls-11004.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11006.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11012.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11048.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11057.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11074.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11088.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11096.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11117.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11124.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11141.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02253
 
sanders_11_ASD_discovery_controls-11160.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11187.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11195.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11196.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11198.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11234.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11242.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11251.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11291.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11305.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11318.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11323.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11336.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC02253,LINC02254
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11357.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11391.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11404.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11439.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11450.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11453.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11470.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11476.s1
 
 
  Both parents
  Simplex (quad)
  NA
  LINC02253
 
sanders_11_ASD_discovery_controls-11479.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11489.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11498.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MCTP2
 
sanders_11_ASD_discovery_controls-11502.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11538.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11544.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11581.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11620.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11627.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11645.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11715.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11872.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11883.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11911.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11939.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC00924
 
sanders_11_ASD_discovery_controls-11954.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11981.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12014.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12020.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12053.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12078.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12121.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12173.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12175.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12233.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12238.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12369.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12437.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12451.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12456.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12462.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12469.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12483.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12499.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12561.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12616.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12621.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12645.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12664.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12715.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12748.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12817.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12955.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12977.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12989.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12997.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13038.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13057.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13144.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13153.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13222.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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