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7p22.1CNV Type: Deletion-Duplication


Largest CNV size: 1400000 bp

Statistics Box:
Number of Reports: 22


Summary Information

Summary statement in development

Additional Locus Information

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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.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Genome-wide characteristics of de novo mutations in autism
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
NA
Duplication
NA
Deletion
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bremer_11_ASD_discovery_cases
 223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
 223
 25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
 
 71.3% Male
 1400000
 0
 1
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 856
 1
 0
 1
 chen_22_DD/ID_discovery_cases
 Patients recruited at the Children's Hospital of Chongqing Medical University, from September 2016 to April 2020.
 69
 Patients presented with developmental delay/intellectual disability (DD/ID), with or without multiple congenital anomalies (MCA).
 Average age at diagnosis, 19 mos.
 50.725% Male
 962559
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 333312
 0
 7
 7
 fan_19_ASD_discovery_cases
 Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
 401
 Cases diagnosed with ASD (DSM-5, ADOS, CARS)
 Range, 1 year 5 months-17 years
 83.54% Male
 144000
 1
 0
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 56600
 1
 0
 1
 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
 293712
 3
 3
 6
 goitia_15_ASD_discovery_cases
 Only child of nonconsanguineous parents diagnosed with autism
 1
 Case diagnosed by pediatrician with autism spectrum disorder (diagnostic tools N/A) at age of 29 months.
 3 yrs. 9 mos.
 Male
 1326000
 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
 1630257
 7
 1
 8
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1368138
 4
 3
 7
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 25295
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 247390
 0
 1
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 304000
 1
 0
 1
 panigrahi_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
 32
 Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
 Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
 78.125% Male
 590578
 0
 1
 1
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 102499
 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
 
 
 333313
 0
 1
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 18549
 5
 3
 8
 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
 316286
 4
 2
 6
 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
 584217
 19
 9
 28
 stobbe_13_ASD_discovery_cases
 Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
 36
 Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
 Range, 18-45 yrs. (mean 25.3 yrs.)
 77.78% Male
 200000
 0
 1
 1
 van_daalen_11_ASD_discovery_cases
 ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
 50
 ASD (DSM-IV-TR, ADOS-G, and ADI-R)
 
 
 363571
 1
 0
 1
 yuen_16_ASD_discovery_cases
 Cases from unrelated trio families from a cohort of Canadian ASD families
 200
 Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
 N/A
 N/A
 135600
 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
 344965
 4
 6
 10
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 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
 130596
 3
 1
 4
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 242846
 1
 1
 2
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 25295
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 247390
 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.
 
 265411
 1
 1
 2
 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)
 173819
 3
 7
 10
 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)
 316286
 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.
 
 269934
 13
 7
 20
 yuen_16_ASD_discovery_controls
 CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bremer_11_ASD_discovery_cases
  Swedish
 aCGH
  BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
 
 
 MLPA, FISH
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 chen_22_DD/ID_discovery_cases
  China
 WGS
  Illumina NovaSeq 6000
 NA
 Chigene
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fan_19_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan HD
 
 ChAS
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 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
 aCGH (NimbleGen 135K array)
 goitia_15_ASD_discovery_cases
  Hispanic
 Array SNP
  REVEAL whole genome chromosome SNP microarray
 
 
 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
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 panigrahi_24_ASD/DD/ID_discovery_cases
  India
 Array SNP
  Affymetrix CytoScan 750K
 
 
 
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 
 
 stobbe_13_ASD_discovery_cases
  N/A
 aCGH
  NimbleGen CGX-3v1.0
 ADM-1
 NimbleScan 2.5, DNA Analytics 4.0
 None
 van_daalen_11_ASD_discovery_cases
  Netherlands
 Solid phase hybridization
  Illumina HumanHap300 BeadChip
 
 Beadstudio V2.3.41
 FISH
 yuen_16_ASD_discovery_cases
  Canada
 N/A
  High-resolution microarray platform
 
 Segseq, ERDS
 qPCR, Sanger sequencing

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13a_ASD_discovery_controls1
  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
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  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_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
  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
 
 
  yuen_16_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  bremer_11_ASD_discovery_cases-case15
 38
 M
 ASD
 Syndromic ASD, sporadic case
 IQ>70
 5093843
 6493844
  1400002
 GRCh38
 Duplication
 Yes
  celestino-soper_11_ASD_discovery_cases-11399
 NA
 M
 ASD
 NA
 NA
 5388510
 5389366
  857
 GRCh38
 Deletion
 No
  chen_22_DD/ID_discovery_cases-case37
 20 mos.
 M
 ASD, developmental delay, and intellectual disability
 Gesell scores: 40-30-60-45-35. Clinical profile: delayed speech and language development, facial abnormalities, ASD, and brain MRI.
 Intellectual disability.
 5832341
 6794899
  962559
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14412_5210
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5601671
 5721229
  119559
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20048_1265001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5552805
 5582925
  30121
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2293_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5810921
 5874831
  63911
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3514_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5794936
 5885525
  90590
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5209_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6724952
 7058264
  333313
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6400_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5672969
 5890035
  217067
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8743_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7000545
 7063352
  62808
 GRCh38
 Duplication
 No
  fan_19_ASD_discovery_cases-caseASD289
 3 yrs.
 F
 ASD
 CARS score 37.5 (severe severity)
 
 5799104
 5943128
  144025
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000045
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S51
 N/A
 5338223
 5394823
  56601
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11121.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
 5589451
 5883163
  293713
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-12894.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
 5732696
 5865675
  132980
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-13651.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
 5732696
 5865675
  132980
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-13906.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
 5732696
 5865675
  132980
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-13995.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
 5732696
 5865675
  132980
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU2157301
 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
 5784031
 5863843
  79813
 GRCh38
 Deletion
 Yes
  goitia_15_ASD_discovery_cases-case1
 3 yrs. 9 mos.
 M
 ASD
 Case diagnosed by pediatrician with autism spectrum disorder (diagnostic tools N/A) at age of 29 months. Birth/neonatal history: born at 39 weeks gestation by normal spontaneous vaginal delivery after uncomplicated pregnancy; birth weight of 3528 g (51st-75th %ile), head circumference of 34.3 cm (26th-50th %ile), and length of 52.1 cm (51st-75th %ile); transferred to NICU for progressive respiratory distress and suspected sepsis and was placed on high flow nasal cannula and antibiotic therapy. Developmental milestones: walked at 16 months of age, did not use any words or point for what he wanted at 23 months. Language and communication evaluation: vocabulary of 6 single words at age of 3 years 9 months, attempted to communicate with family through gestures at age of 3 years 9 months. Motor and musculoskeletal evaluation: muscle tone difficult to assess at 29 months of age due to poor cooperation with examiner. Behavioral/psychiatric evaluation: poor eye contact, no typical ritualistic behavior described by parents; placed on Guanfacne for aggressive behavior and outbursrs of screaming and walking out of the house during tantrums. Cardiac evaluation: echocardiogram at birth revealed large patent ductus arteriosus (PDA) with left to right shunt, mild tricuspid regurgitation, and patent foramen ovale with left to right shunt. Dysmorphic features: brachycephaly, hypertelorism, prominent lower face, right ear protruded more than left ear; undescended right testicle; right distal palmar crease extends to 2-3 interspace with small bridged proximal crease, left palmar creases bridged to form one. Family history: only child of nonconsanguineous parents (parental DNA not tested); family history remarkable for maternal grandmother having three miscarriages.
 
 5436367
 6762394
  1326000
 Unknown
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001968
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6137098
 6398566
  261469
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002018
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 5117519
 5880375
  762857
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002310
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 5497215
 5531287
  34073
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003908
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 4532619
 5378373
  845755
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004486
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 5062000
 6692258
  1630259
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004597
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 5331115
 6031221
  700107
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004869
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 4876621
 6492003
  1615383
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004988
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 5062000
 5825183
  763184
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11121.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 5641153
 5883999
  242847
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12704.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 5491230
 5505630
  14401
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13053.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4822393
 6190531
  1368139
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13748.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 5491230
 5505630
  14401
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13849.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6015145
 6104814
  89670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13995.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 5711760
 5761069
  49310
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14432.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4907395
 4925532
  18138
 GRCh38
 Deletion
 Yes
  larson_17_ASD_discovery_cases-case55
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 5909183
 5934478
  25296
 GRCh38
 Duplication
 No
  larson_17_ASD_discovery_cases-case56
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 5909183
 5934478
  25296
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11909.p1
 NA
 M
 ASD
 NA
 NA
 6942996
 7190385
  247390
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case42
  NA NA
 3 yrs.
 M
 Language delay and language disorder
 Birth history: born at 41 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: language disorder. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: cerebral malformations, ocular anomalies. Dysmorphic features: straight eyebrows, deeply set eyes, posteriorly rotated ears with thick helices. Growth parameters: microcephaly, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
 Mild intellectual disability
 5521535
 5825220
  303686
 GRCh38
 Deletion
 No
  panigrahi_24_ASD/DD/ID_discovery_cases-case22
  NA NA
 4 mos.
 M
 Developmental delay
 Failure to thrive, microcephaly, cranial asymmetry, hypertelorism, motor developmental delay.
 
 5178829
 5769406
  590578
 GRCh38
 Duplication
 No
  pfundt_16_NDD_discovery_cases-case17
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: PMS2 deletion (ACMG)
 
 5938721
 6041220
  102500
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5209_3
 NA
 M
 Autism
 Below average language (<1%ile), no epilepsy, no dysmorphic features
 Average nonverbal IQ (50%ile)
 6724952
 7058264
  333313
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case00HI1200A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU054104; NDAR ID NDAR_INVCX001LTX)
 
 5527746
 5529659
  1914
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case01HI2153A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU080204; NDAR ID NDAR_INVDX128VU1)
 
 5901655
 5912956
  11302
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case01HI2153A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU080204; NDAR ID NDAR_INVDX128VU1)
 
 6806002
 6824550
  18549
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case01HI2184A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU083504; NDAR ID NDAR_INVBU061BF1)
 
 5527746
 5529402
  1657
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case04HI2774A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0994302; NDAR ID NDAR_INVRW825HC4)
 
 5995532
 6004060
  8529
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 5527746
 5529402
  1657
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0999B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU048704; NDAR ID NDAR_INVHR102FNK)
 
 7234318
 7243729
  9412
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI1043A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU006305; NDAR ID NDAR_INVRH216ZC3)
 
 5901655
 5905271
  3617
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case100441
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 4504217
 4550015
  45799
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case119974L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 4811965
 4849873
  37909
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case128860
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 4535215
 4550015
  14801
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case155569L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7089142
 7138026
  48885
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case43738
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 5101997
 5183756
  81760
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case89851L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 6743587
 7059872
  316286
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11121.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
 5641369
 5911303
  269935
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 4784340
 4801718
  17379
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11472.p1
 13.7
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
 4784340
 4801718
  17379
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11484.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104
 6827290
 7021787
  194498
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11491.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
 4784340
 4801718
  17379
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11592.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
 4784340
 4801718
  17379
 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
 4784340
 4801718
  17379
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11625.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
 4784340
 4801718
  17379
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11825.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
 7137115
 7138914
  1800
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11909.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
 6890031
 6951260
  61230
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11922.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
 4784340
 4813051
  28712
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 4784340
 4801718
  17379
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11977.p1
 10.2
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
 4784340
 4801718
  17379
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11984.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
 4588712
 4592871
  4160
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11986.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
 4928032
 4943622
  15591
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12007.p1
 8.7
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
 4784340
 4813051
  28712
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 4784340
 4801718
  17379
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 4971362
 4978914
  7553
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 7012606
 7014414
  1809
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12579.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
 5794936
 5911303
  116368
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12579.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
 6830626
 6846654
  16029
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12661.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
 6084424
 6098480
  14057
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12704.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 106
 5485174
 5505796
  20623
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12894.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
 5753114
 5890035
  136922
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13021.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
 5810921
 5843014
  32094
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13053.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
 5963493
 6241456
  277964
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13053.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
 4822628
 5284572
  461945
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13053.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
 5319362
 5903579
  584218
 GRCh38
 Duplication
 No
  stobbe_13_ASD_discovery_cases-case14
 22 yrs.
 M
 Autism and intellectual disability
 Dolichocephaly, head circumference of 57 cm, prominent ears, narrow face, wide mouth, scoliosis, severe pectus excavatum. Has 30 words. Normal brain MRI. Negative family history. Karyotype: normal. Fragile X testing: normal.
 Intellectual disability
 4729061
 4901866
  172806
 GRCh38
 Duplication
 No
  van_daalen_11_ASD_discovery_cases-S2
 6 yrs. 8 mos.
 M
 ASD
 DSM-IV-TR classification: autistic disorder; ADOS-G classification: autism spectrum disorder; ADI-R classification: autistic disorder. SRS score: 90. No family history of ASD and/or intellectual disability. Facial dysmorphic features, minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 21; mother's SRS score, 42.
 Mullen Scales of Early Learning (MSEL) cognitive score: 69
 6370690
 6734261
  363572
 GRCh38
 Deletion
 Yes
  yuen_16_ASD_discovery_cases-sample1-0514-003
 N/A
 N/A
 ASD
 Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
 
 5353970
 5489569
  135600
 GRCh38
 Deletion
 Yes

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-controlB356202_1007844561
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6295116
  6344369
  49254
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB410474_1007853687
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4806070
  4906544
  100475
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB458104_1007875358
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6718387
  7063352
  344966
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB584983_1007848513
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5810921
  5843891
  32971
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB791125_1007873652
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5641369
  5943111
  301743
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB885552_1007853677
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5623217
  5943111
  319895
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900276_900276
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5083014
  5127529
  44516
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900369_900369
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5783590
  5890035
  106446
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902431_902431
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5781089
  5890035
  108947
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5655628
  5689212
  33585
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split249
  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
 
  6929662
  7060257
  130596
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split400
  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
 
  6870635
  6986621
  115987
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split400
  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
 
  5834567
  5891221
  56655
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split620
  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
 
  6929662
  7060257
  130596
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11121.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  5641153
  5883999
  242847
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12704.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  5491230
  5505630
  14401
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11909.s1
  NA
  M
  Control
  NA
  NA
  6942996
  7190385
  247390
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C26363
 
 
  Control
 
 
  6061003
  6085799
  24797
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C28226
 
 
  Control
 
 
  6815871
  7081281
  265411
  Unknown
  Duplication
 
  poultney_13_ASD_discovery_controls-control04C27998A
  N/A
  M
  Control
  NIMH Control (NIMH ID 94384)
 
  5527746
  5529402
  1657
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C28851A
  N/A
  M
  Control
  NIMH Control (NIMH ID 46341)
 
  5048075
  5073218
  25144
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C29918A
  N/A
  F
  Control
  NIMH Control (NIMH ID 15210)
 
  5901655
  5978698
  77044
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C33646A
  N/A
  M
  Control
  NIMH Control (NIMH ID 83300)
 
  5527746
  5529402
  1657
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C37421A
  N/A
  M
  Control
  NIMH Control (NIMH ID 21658)
 
  5901655
  5926550
  24896
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C37915A
  N/A
  M
  Control
  NIMH Control (NIMH ID 11762)
 
  5901655
  5926550
  24896
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C38689A
  N/A
  M
  Control
  NIMH Control (NIMH ID 36827)
 
  5880888
  5886091
  5204
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C43720
  N/A
  M
  Control
  NIMH Control (NIMH ID 70856)
 
  5880888
  6054706
  173819
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C43915
  N/A
  F
  Control
  NIMH Control (NIMH ID 57493)
 
  5925630
  5978698
  53069
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C45836
  N/A
  M
  Control
  NIMH Control (NIMH ID 26071)
 
  5527746
  5529402
  1657
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11031.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  6902838
  6947019
  44182
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11121.s1
  16.2
  F
  Control (matched sibling)
  NA
  NA
  5641369
  5911303
  269935
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11472.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  4784340
  4801718
  17379
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11484.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  6830626
  7021787
  191162
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11484.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  5863352
  5903579
  40228
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11491.s1
  8.7
  M
  Control (matched sibling)
  NA
  NA
  4784340
  4801718
  17379
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11569.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  5721229
  5903579
  182351
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11571.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  4780950
  4792740
  11791
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11620.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  4784340
  4801718
  17379
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11644.s1
  14.2
  F
  Control (matched sibling)
  NA
  NA
  4588712
  4603260
  14549
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11715.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  4784340
  4801718
  17379
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11909.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  6861814
  6951260
  89447
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11933.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  4784340
  4801718
  17379
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12007.s1
  10.9
  M
  Control (matched sibling)
  NA
  NA
  4784340
  4801718
  17379
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12032.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  4784340
  4814961
  30622
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12579.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  6830626
  6861814
  31189
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12579.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  5794936
  5890035
  95100
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12704.s1
  6.4
  F
  Control (matched sibling)
  NA
  NA
  5485174
  5505796
  20623
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12894.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  5753114
  5903579
  150466
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13021.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  5810921
  5843014
  32094
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bremer_11_ASD_discovery_cases-case15
 MLPA, FISH
 
 De novo
 NA
 NA
 RNU6-215P,MIR589,MIR6874,RN7SL556P,SNORA80D,ANKRD61,RN7SL851P,RNU6-218P,RPSAP73,ZNF890P,WIPI2,SLC29A4,ACTB,FSCN1,RNF216-IT1,ZNF815P,OCM,CCZ1,RSPH10B,PMS2,AIMP2,CYTH3,FAM220A,RAC1,KDELR2,OR10AH1P,TNRC18,FBXL18,RNF216,EIF2AK1,USP42,DAGLB
 
 celestino-soper_11_ASD_discovery_cases-11399
 
 
 Unknown
 Simplex
 NA
 TNRC18
 
 chen_22_DD/ID_discovery_cases-case37
 
 
 De novo
 
 
 EIF2AK1,CCZ1,ZNF853,ZDHHC4,C7orf26,USP42,FAM220A,CCZ1B,DAGLB,RSPH10B,GRID2IP,PMS2CL,ZNF815P,RSPH10B2,OCM,ZNF316,ANKRD61,SPDYE20P,PMS2,RAC1,RNU6-218P,RN7SL851P,RN7SL556P,RPSAP73,SNORA80D,ZNF12,AIMP2,CYTH3,KDELR2
 
 engchuan_15_ASD_discovery_cases-case14412_5210
 
 
 Unknown
 
 
 MIR6874,FSCN1,RNF216-IT1,RNF216
 
 engchuan_15_ASD_discovery_cases-case20048_1265001
 
 
 Unknown
 
 
 ACTB
 
 engchuan_15_ASD_discovery_cases-case2293_1
 
 
 Unknown
 
 
 RN7SL556P,ZNF815P
 
 engchuan_15_ASD_discovery_cases-case3514_3
 
 
 Unknown
 
 
 RN7SL556P,ZNF815P,OCM
 
 engchuan_15_ASD_discovery_cases-case5209_3
 
 
 Unknown
 
 
 OR7E39P,UNC93B2,OR7E136P,OR7E59P,FAM86LP,PMS2CL,RSPH10B2,ALG1L5P,CCZ1B
 
 engchuan_15_ASD_discovery_cases-case6400_5
 
 
 Unknown
 
 
 MIR6874,RN7SL556P,RNF216-IT1,ZNF815P,OCM,RNF216
 
 engchuan_15_ASD_discovery_cases-case8743_202
 
 
 Unknown
 
 
 
 
 fan_19_ASD_discovery_cases-caseASD289
 
 
 Unknown
 Unknown
 Unknown
 RN7SL556P,ZNF815P,OCM,CCZ1,RSPH10B
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000045
 
 
 De novo
 Unknown
 Unknown
 TNRC18
 
 girirajan_13a_ASD_discovery_cases-11121.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 MIR6874,RN7SL556P,FSCN1,RNF216-IT1,ZNF815P,OCM,RNF216
 
 girirajan_13a_ASD_discovery_cases-12894.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 ZNF815P,RNF216
 
 girirajan_13a_ASD_discovery_cases-13651.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 ZNF815P,RNF216
 
 girirajan_13a_ASD_discovery_cases-13906.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 ZNF815P,RNF216
 
 girirajan_13a_ASD_discovery_cases-13995.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 ZNF815P,RNF216
 
 girirajan_13a_ASD_discovery_cases-AU2157301
 aCGH (NimbleGen 135K array)
 
 Paternal
 Multiplex
 Unknown
 ZNF815P
 
 goitia_15_ASD_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 FBXL18, ACTB, FSCN1, RNF216, OCM, EIF2K1, AIMP2, PMS2, CYTH3, RAC1, DAGLB, KDELR2, GRID2IP, ZNF12
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001968
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RPSAP73,CYTH3,FAM220A,RAC1,USP42
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002018
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RNU6-215P,MIR589,MIR6874,RN7SL556P,ZNF890P,WIPI2,SLC29A4,ACTB,FSCN1,RNF216-IT1,ZNF815P,OCM,OR10AH1P,TNRC18,FBXL18,RNF216
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002310
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 ACTB,FBXL18
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003908
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR4656,PAPOLB,RPL22P16,SPDYE19P,RBAKDN,RNU6-215P,AP5Z1,MMD2,RBAK-RBAKDN,RBAK,ZNF890P,WIPI2,SLC29A4,FOXK1,RADIL,RNF216P1,OR10AH1P,TNRC18
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004486
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RBAKDN,RNU6-215P,MIR589,MIR6874,RN7SL556P,SNORA80D,ANKRD61,RN7SL851P,RNU6-218P,RPSAP73,RBAK-RBAKDN,RBAK,ZNF890P,WIPI2,SLC29A4,ACTB,FSCN1,RNF216-IT1,ZNF815P,OCM,CCZ1,RSPH10B,PMS2,AIMP2,CYTH3,FAM220A,RAC1,KDELR2,GRID2IP,ZDHHC4,C7orf26,ZNF853,ZNF316,ZNF12,OR10AH1P,TNRC18,FBXL18,RNF216,EIF2AK1,USP42,DAGLB
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004597
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR589,MIR6874,RN7SL556P,SNORA80D,ACTB,FSCN1,RNF216-IT1,ZNF815P,OCM,CCZ1,RSPH10B,PMS2,AIMP2,TNRC18,FBXL18,RNF216,EIF2AK1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004869
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPDYE19P,RBAKDN,RNU6-215P,MIR589,MIR6874,RN7SL556P,SNORA80D,ANKRD61,RN7SL851P,RNU6-218P,RPSAP73,MMD2,RBAK-RBAKDN,RBAK,ZNF890P,WIPI2,SLC29A4,ACTB,FSCN1,RNF216-IT1,ZNF815P,OCM,CCZ1,RSPH10B,PMS2,AIMP2,CYTH3,FAM220A,RAC1,KDELR2,RADIL,RNF216P1,OR10AH1P,TNRC18,FBXL18,RNF216,EIF2AK1,USP42,DAGLB
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004988
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RBAKDN,RNU6-215P,MIR589,MIR6874,RBAK-RBAKDN,RBAK,ZNF890P,WIPI2,SLC29A4,ACTB,FSCN1,RNF216-IT1,ZNF815P,OR10AH1P,TNRC18,FBXL18,RNF216
 
 krumm_15_ASD_discovery_cases-case11121.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MIR6874,RN7SL556P,RNF216-IT1,ZNF815P,OCM,RNF216
 
 krumm_15_ASD_discovery_cases-case12704.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MIR589,FBXL18
 
 krumm_15_ASD_discovery_cases-case13053.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 PAPOLB,RPL22P16,SPDYE19P,RBAKDN,RNU6-215P,MIR589,MIR6874,RN7SL556P,SNORA80D,ANKRD61,RN7SL851P,RNU6-218P,MMD2,RBAK-RBAKDN,RBAK,ZNF890P,WIPI2,SLC29A4,ACTB,FSCN1,RNF216-IT1,ZNF815P,OCM,CCZ1,RSPH10B,PMS2,AIMP2,CYTH3,RADIL,RNF216P1,OR10AH1P,TNRC18,FBXL18,RNF216,EIF2AK1,USP42
 
 krumm_15_ASD_discovery_cases-case13748.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 MIR589,FBXL18
 
 krumm_15_ASD_discovery_cases-case13849.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SNORA80D,ANKRD61,RN7SL851P,RNU6-218P,AIMP2,EIF2AK1
 
 krumm_15_ASD_discovery_cases-case13995.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 MIR6874,RNF216
 
 krumm_15_ASD_discovery_cases-case14432.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 MMD2
 
 larson_17_ASD_discovery_cases-case55
 
 
 Unknown
 
 Unknown
 CCZ1,RSPH10B
 
 larson_17_ASD_discovery_cases-case56
 
 
 Unknown
 
 Unknown
 CCZ1,RSPH10B
 
 levy_11_ASD_discovery_cases-11909.p1
 
 
 Paternal
 Simplex
 Not segregated
 MIR3683,C1GALT1
 
 maini_18_ASD/DD/ID_discovery_cases-case42
 
 
 De novo
 Simplex
 Possibly segregated
 MIR6874,ACTB,FSCN1,RNF216-IT1,ZNF815P,RNF216
 
 panigrahi_24_ASD/DD/ID_discovery_cases-case22
 
 
 Unknown
 
 
 ACTB,RNF216,FBXL18,TNRC18,SLC29A4,MIR589,RNF216-IT1,MIR6874,FSCN1,RNU6-215P,WIPI2
 
 pfundt_16_NDD_discovery_cases-case17
 
 
 
 
 
 SNORA80D,ANKRD61,RSPH10B,PMS2,AIMP2,EIF2AK1
 
 pinto_10_ASD_discovery_cases-case5209_3
 Agilent1M
 
 paternal
 Multiplex
 NA
 OR7E39P,UNC93B2,OR7E136P,OR7E59P,FAM86LP,PMS2CL,RSPH10B2,ALG1L5P,CCZ1B
 
 poultney_13_ASD_discovery_cases-case00HI1200A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ACTB
 
 poultney_13_ASD_discovery_cases-case01HI2153A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CCZ1
 
 poultney_13_ASD_discovery_cases-case01HI2153A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CCZ1B
 
 poultney_13_ASD_discovery_cases-case01HI2184A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ACTB
 
 poultney_13_ASD_discovery_cases-case04HI2774A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PMS2
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ACTB
 
 poultney_13_ASD_discovery_cases-case99HI0999B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 C1GALT1
 
 poultney_13_ASD_discovery_cases-case99HI1043A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CCZ1
 
 prasad_12_ASD_discovery_cases-case100441
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case119974L
 
 
 Unknown
 Unknown
 Unknown
 RADIL
 
 prasad_12_ASD_discovery_cases-case128860
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case155569L
 
 
 Unknown
 Unknown
 Unknown
 LOC100131257
 
 prasad_12_ASD_discovery_cases-case43738
 
 
 Unknown
 Unknown
 Unknown
 ZNF890P
 
 prasad_12_ASD_discovery_cases-case89851L
 
 
 Unknown
 Unknown
 Unknown
 PMS2CL,RSPH10B,RSPH10B2,C7orf28B
 
 sanders_11_ASD_discovery_cases-11121.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MIR6874,RN7SL556P,RNF216-IT1,ZNF815P,OCM,CCZ1,RNF216
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-11472.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-11484.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR7E39P,UNC93B2,OR7E136P,OR7E59P,FAM86LP,ALG1L5P
 
 sanders_11_ASD_discovery_cases-11491.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-11592.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-11620.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-11625.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-11825.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11909.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FAM86LP,ALG1L5P
 
 sanders_11_ASD_discovery_cases-11922.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-11977.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-11984.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11986.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MMD2
 
 sanders_11_ASD_discovery_cases-12007.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 MIR4656,AP5Z1,RADIL
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RNF216P1
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12579.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SL556P,ZNF815P,OCM,CCZ1
 
 sanders_11_ASD_discovery_cases-12579.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 OR7E39P
 
 sanders_11_ASD_discovery_cases-12661.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12704.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR589,FBXL18
 
 sanders_11_ASD_discovery_cases-12894.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RN7SL556P,ZNF815P,OCM,RNF216
 
 sanders_11_ASD_discovery_cases-13021.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF815P
 
 sanders_11_ASD_discovery_cases-13053.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SNORA80D,ANKRD61,RN7SL851P,RNU6-218P,RSPH10B,PMS2,AIMP2,CYTH3,EIF2AK1,USP42
 
 sanders_11_ASD_discovery_cases-13053.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PAPOLB,RPL22P16,SPDYE19P,RBAKDN,RNU6-215P,MMD2,RBAK-RBAKDN,RBAK,ZNF890P,WIPI2,SLC29A4,RADIL,RNF216P1,OR10AH1P
 
 sanders_11_ASD_discovery_cases-13053.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MIR589,MIR6874,RN7SL556P,ACTB,FSCN1,RNF216-IT1,ZNF815P,OCM,CCZ1,TNRC18,FBXL18,RNF216
 
 stobbe_13_ASD_discovery_cases-case14
 
 
 Unknown
 Unknown (possible simplex)
 Unknown
 MIR4656,PAPOLB,RPL22P16,AP5Z1,FOXK1,RADIL
 
 van_daalen_11_ASD_discovery_cases-S2
 FISH
 
 De novo
 Simplex
 NA
 RAC1,KDELR2,GRID2IP,ZDHHC4,C7orf26,ZNF853,ZNF316,ZNF12,PMS2CL,SPDYE20P,DAGLB
 
 yuen_16_ASD_discovery_cases-sample1-0514-003
 qPCR and/or Sanger sequencing
 
 De novo
 Simplex
 Segregated
 TNRC18,FBXL18
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
 
 
  Unknown
 
 
  FAM220A
 
engchuan_15_ASD_discovery_controls-controlB410474_1007853687
 
 
  Unknown
 
 
  PAPOLB,RPL22P16,MMD2,RADIL
 
engchuan_15_ASD_discovery_controls-controlB458104_1007875358
 
 
  Unknown
 
 
  OR7E39P,UNC93B2,OR7E136P,OR7E59P,FAM86LP,PMS2CL,SPDYE20P,RSPH10B2,ALG1L5P,CCZ1B
 
engchuan_15_ASD_discovery_controls-controlB584983_1007848513
 
 
  Unknown
 
 
  ZNF815P
 
engchuan_15_ASD_discovery_controls-controlB791125_1007873652
 
 
  Unknown
 
 
  MIR6874,RN7SL556P,RNF216-IT1,ZNF815P,OCM,CCZ1,RSPH10B,RNF216
 
engchuan_15_ASD_discovery_controls-controlB885552_1007853677
 
 
  Unknown
 
 
  MIR6874,RN7SL556P,RNF216-IT1,ZNF815P,OCM,CCZ1,RSPH10B,RNF216
 
engchuan_15_ASD_discovery_controls-controlHABC_900276_900276
 
 
  Unknown
 
 
  ZNF890P,OR10AH1P
 
engchuan_15_ASD_discovery_controls-controlHABC_900369_900369
 
 
  Unknown
 
 
  RN7SL556P,ZNF815P,OCM
 
engchuan_15_ASD_discovery_controls-controlHABC_902431_902431
 
 
  Unknown
 
 
  RN7SL556P,ZNF815P,OCM,RNF216
 
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
 
 
  Unknown
 
 
  RNF216-IT1,RNF216
 
kanduri_15_ASD_discovery_controls-control_split249
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CCZ1B(dist=63736),LOC100131257(dist=55144)
 
kanduri_15_ASD_discovery_controls-control_split400
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CCZ1B(dist=4709),LOC100131257(dist=128780)
 
kanduri_15_ASD_discovery_controls-control_split400
 
 
  Unknown
 
 
  ZNF815P (non-coding RNA, exonic)
 
kanduri_15_ASD_discovery_controls-control_split620
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, CCZ1B(dist=63736),LOC100131257(dist=55144)
 
krumm_15_ASD_discovery_controls-control11121.s1
  Illumina 1M
 
  Maternal
 
 
  MIR6874,RN7SL556P,RNF216-IT1,ZNF815P,OCM,RNF216
 
krumm_15_ASD_discovery_controls-control12704.s1
  Illumina 1MDuo
 
  Maternal
 
 
  MIR589,FBXL18
 
levy_11_ASD_discovery_controls-11909.s1
 
 
  Paternal
  Simplex
  NA
  MIR3683,C1GALT1
 
nord_11_ASD_discovery_controls-04C26363
 
 
 
 
 
  RSPH10B,RSPH10B2,EIF2AK1
 
nord_11_ASD_discovery_controls-04C28226
 
 
 
 
 
  C7orf28B
 
poultney_13_ASD_discovery_controls-control04C27998A
 
 
  Unknown
 
 
  ACTB
 
poultney_13_ASD_discovery_controls-control04C28851A
 
 
  Unknown
 
 
  RBAKDN,RBAK-RBAKDN,RBAK
 
poultney_13_ASD_discovery_controls-control04C29918A
 
 
  Unknown
 
 
  CCZ1,RSPH10B,PMS2
 
poultney_13_ASD_discovery_controls-control04C33646A
 
 
  Unknown
 
 
  ACTB
 
poultney_13_ASD_discovery_controls-control04C37421A
 
 
  Unknown
 
 
  CCZ1,RSPH10B
 
poultney_13_ASD_discovery_controls-control04C37915A
 
 
  Unknown
 
 
  CCZ1,RSPH10B
 
poultney_13_ASD_discovery_controls-control05C38689A
 
 
  Unknown
 
 
  OCM
 
poultney_13_ASD_discovery_controls-control05C43720
 
 
  Unknown
 
 
  SNORA80D,ANKRD61,RN7SL851P,OCM,CCZ1,RSPH10B,PMS2,AIMP2,EIF2AK1
 
poultney_13_ASD_discovery_controls-control05C43915
 
 
  Unknown
 
 
  CCZ1,RSPH10B,PMS2
 
poultney_13_ASD_discovery_controls-control05C45836
 
 
  Unknown
 
 
  ACTB
 
sanders_11_ASD_discovery_controls-11031.s1
 
 
  Unknown
  Simplex (quad)
  NA
  FAM86LP,ALG1L5P
 
sanders_11_ASD_discovery_controls-11121.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MIR6874,RN7SL556P,RNF216-IT1,ZNF815P,OCM,CCZ1,RNF216
 
sanders_11_ASD_discovery_controls-11472.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR4656,AP5Z1,RADIL
 
sanders_11_ASD_discovery_controls-11484.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR7E39P,UNC93B2,OR7E136P,OR7E59P,FAM86LP,ALG1L5P
 
sanders_11_ASD_discovery_controls-11484.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RN7SL556P,OCM,CCZ1
 
sanders_11_ASD_discovery_controls-11491.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR4656,AP5Z1,RADIL
 
sanders_11_ASD_discovery_controls-11569.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RN7SL556P,ZNF815P,OCM,CCZ1,RNF216
 
sanders_11_ASD_discovery_controls-11571.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR4656,AP5Z1
 
sanders_11_ASD_discovery_controls-11620.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR4656,AP5Z1,RADIL
 
sanders_11_ASD_discovery_controls-11644.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11715.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR4656,AP5Z1,RADIL
 
sanders_11_ASD_discovery_controls-11909.s1
 
 
  Paternal
  Simplex (quad)
  NA
  OR7E136P,OR7E59P,FAM86LP,ALG1L5P
 
sanders_11_ASD_discovery_controls-11933.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR4656,AP5Z1,RADIL
 
sanders_11_ASD_discovery_controls-12007.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR4656,AP5Z1,RADIL
 
sanders_11_ASD_discovery_controls-12032.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR4656,AP5Z1,RADIL
 
sanders_11_ASD_discovery_controls-12579.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR7E39P,UNC93B2
 
sanders_11_ASD_discovery_controls-12579.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RN7SL556P,ZNF815P,OCM
 
sanders_11_ASD_discovery_controls-12704.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MIR589,FBXL18
 
sanders_11_ASD_discovery_controls-12894.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RN7SL556P,ZNF815P,OCM,CCZ1,RNF216
 
sanders_11_ASD_discovery_controls-13021.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF815P
 

No Animal Model Data Available
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