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4q32.3CNV Type: Deletion-Duplication


Largest CNV size: 427845 bp

Statistics Box:
Number of Reports: 20


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
Phenomic determinants of genomic variation in autism spectrum disorders.
Duplication
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
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
NA
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 199
 1
 0
 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
 135
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 197322
 9
 3
 12
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 200271
 2
 0
 2
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 660831
 0
 1
 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
 662000
 0
 2
 2
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 3635974
 2
 0
 2
 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
 749069
 0
 1
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 2799
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 263037
 0
 1
 1
 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
 58643
 0
 1
 1
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 700000
 0
 1
 1
 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
 195295
 1
 0
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 148298
 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
 
 
 179444
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 206354
 2
 1
 3
 qiao_09_ASD_discovery_cases
 Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)
 100
 ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards
 Range, 2-40 yrs.
 76% Male
 200000
 0
 1
 1
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 1244000
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 38940
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 427845
 12
 9
 21
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 3208000
 2
 0
 2

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
 186619
 11
 1
 12
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 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
 172408
 1
 0
 1
 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
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 122774
 0
 1
 1
 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
 58643
 0
 1
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 36343
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 206354
 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.
 
 440394
 10
 3
 13

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 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
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 aCGH (Agilent hotspot 2x400K)
 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_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 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
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 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
 qiao_09_ASD_discovery_cases
  NA
 aCGH
  BACs aCGH
 
 
 qPCR
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 QMPSF
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

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_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  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)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_cases-caseSSC00429
 N/A
 F
 ASD
 Case from SSC_phase2 cohort
 
 165322330
 165322528
  199
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11156
 NA
 M
 ASD
 NA
 NA
 163517310
 163517445
  136
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13176_1933
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 167887449
 168073158
  185710
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20127_4014001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 167886539
 168066892
  180354
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20182_1706001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 167887449
 168066892
  179444
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2298_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 163699063
 163730898
  31836
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3615_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 166160334
 166247703
  87370
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4210_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 167210297
 167248108
  37812
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4379_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 167887449
 168066892
  179444
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4382_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 167887449
 168066892
  179444
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4549_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 164131152
 164197500
  66349
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5125_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 167887449
 168066892
  179444
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8411_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 164425379
 164504052
  78674
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8424_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 167722655
 167919977
  197323
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1156301
 
 
 Autism
 
 
 167519795
 167720065
  200271
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1156303
 
 
 Autism
 
 
 167519795
 167720065
  200271
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU0962303
 
 
 Autism
 
 
 165029862
 165690692
  660831
 Unknown
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12033.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
 164779398
 165219398
  440001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU0962303
 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
 163889398
 164549398
  660001
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-45804101669
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 165099698
 168718548
  3618851
 GRCh38
 Deletion
 Yes
  girirajan_13b_ASD_discovery_cases-45804101669
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 165547720
 166388691
  840972
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005221
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 163823391
 164572460
  749070
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case13385.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13385. SRS score of 90.
 Full-scale IQ (FSIQ) score of 16.
 168162527
 168165326
  2800
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case12033.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 164957022
 165220059
  263038
 GRCh38
 Duplication
 Yes
  larson_17_ASD_discovery_cases-case49
  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.
 
 168995886
 169054529
  58644
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU0962303
 N/A
 M
 ASD
 
 
 163888848
 164549848
  661001
 GRCh38
 Duplication
 No
  mosca_16_DCD_discovery_cases-case116703
 N/A
 M
 DCD/ADHD
 Ancestry: South Asian. Family history: maternal diagnosis DCD; paternal diagnosis DCD and reading disorder.
 
 166527789
 166723084
  195296
 GRCh38
 Deletion
 Yes
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 N/A
 M
 ASD and ADHD
 Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
 TIQ score of 109
 167889639
 168037937
  148299
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5125_3
 NA
 M
 ASD
 NA
 NA
 167887449
 168066892
  179444
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case143189
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 167541263
 167604016
  62754
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case56040
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 167667544
 167873897
  206354
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case71182
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 168353519
 168410348
  56830
 Unknown
 Duplication
 No
  qiao_09_ASD_discovery_cases-case10
 Range, 11-15
 M
 Autism
 Phenotype Score: 4. Growth parameters: postnatal large stature (>98th %ile). Dysmorphic features: >2 craniofacial dysmorphisms. Seizures: none.
 No cognitive impairment
 165338176
 165541022
  200000
 Unknown
 Duplication
 Yes
  qiao_12_ASD_discovery_cases-case05-157A
 NA
 NA
 ASD and/or ID
 NA
 NA
 165198428
 166442098
  1244000
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1052-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 164185337
 164224276
  38940
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11080.p1
 5.1
 F
 ASD
 NA
 Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
 164943274
 164958229
  14956
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 164080539
 164119921
  39383
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11158.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 164943274
 164958229
  14956
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11264.p1
 10.7
 F
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
 164655588
 164666188
  10601
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11410.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
 166242150
 166265019
  22870
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11479.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
 164655588
 164666188
  10601
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11709.p1
 6.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59
 164947077
 164958229
  11153
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 164943274
 164958229
  14956
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11901.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 27
 165741056
 165742126
  1071
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12033.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
 164773283
 165201128
  427846
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12038.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 83; verbal IQ, 60
 169010601
 169018692
  8092
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12102.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
 164943274
 164958229
  14956
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 168187321
 168200050
  12730
 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
 166680954
 166701009
  20056
 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
 164655588
 164666188
  10601
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12598.p1
 17.4
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 83; verbal IQ, 34
 166384549
 166412960
  28412
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12618.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 102
 166673821
 166734811
  60991
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12964.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
 164943274
 164958229
  14956
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13152.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
 164943274
 164958229
  14956
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13233.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
 168187321
 168202383
  15063
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 164614720
 164625926
  11207
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-case2-0503-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: asthma
 
 165546848
 168754849
  3208002
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case2-0503-004
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: asthma
 
 165546848
 168754849
  3208002
 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-control110036023422_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  167887449
  168066892
  179444
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB149228_1007853581
  N/A
  N/A
  Control
  No previous psychiatric history
 
  167887449
  168066892
  179444
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB256025_1007875987
  N/A
  N/A
  Control
  No previous psychiatric history
 
  167886539
  168073158
  186620
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB485082_1007853837
  N/A
  N/A
  Control
  No previous psychiatric history
 
  166539133
  166586351
  47219
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB536696_1007853709
  N/A
  N/A
  Control
  No previous psychiatric history
 
  164131152
  164194450
  63299
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB553894_1007850188
  N/A
  N/A
  Control
  No previous psychiatric history
 
  167865761
  167929224
  63464
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB826617_0067942631
  N/A
  N/A
  Control
  No previous psychiatric history
 
  163874377
  163923837
  49461
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB979208_1007842459
  N/A
  N/A
  Control
  No previous psychiatric history
 
  167887449
  168066892
  179444
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901105_901105
  N/A
  N/A
  Control
  No previous psychiatric history
 
  167887449
  168066892
  179444
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901250_901250
  N/A
  N/A
  Control
  No previous psychiatric history
 
  167331410
  167364861
  33452
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902572_902572
  N/A
  N/A
  Control
  No previous psychiatric history
 
  167887449
  168066892
  179444
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902858_902858
  N/A
  N/A
  Control
  No previous psychiatric history
 
  167887449
  168066892
  179444
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split2119
  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
 
  168815347
  168987754
  172408
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control12033.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  164957022
  165079796
  122775
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control05C43962
  N/A
  F
  Control
  NIMH Control (NIMH ID 74677)
 
  165305606
  165341948
  36343
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11101.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  166242150
  166265019
  22870
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  164943274
  164958229
  14956
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11410.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  166242150
  166265019
  22870
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  168187321
  168200050
  12730
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  164777056
  165191798
  414743
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11810.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  167695569
  167705288
  9720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11911.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  164655588
  164666188
  10601
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11966.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  167695569
  167705288
  9720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12033.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  164773283
  165213677
  440395
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12113.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  167695569
  167705288
  9720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12233.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  164655588
  164666188
  10601
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12403.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  166539133
  166569254
  30122
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12924.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  166539133
  166569254
  30122
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-caseSSC00429
 No validation step reported
 
 Paternal
 
 
 KLHL2
 
 celestino-soper_11_ASD_discovery_cases-11156
 
 
 Unknown
 Simplex
 NA
 TMA16
 
 engchuan_15_ASD_discovery_cases-case13176_1933
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20127_4014001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20182_1706001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case2298_1
 
 
 Unknown
 
 
 MARCH1
 
 engchuan_15_ASD_discovery_cases-case3615_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4210_1
 
 
 Unknown
 
 
 SPOCK3
 
 engchuan_15_ASD_discovery_cases-case4379_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4382_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4549_1
 
 
 Unknown
 
 
 ANP32C,MARCH1
 
 engchuan_15_ASD_discovery_cases-case5125_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8411_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8424_201
 
 
 Unknown
 
 
 
 
 gai_11_ASD_discovery_cases-AU1156301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1156303
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU0962303
 
 
 Inherited
 
 
 ANP32C, MARCH1
 
 girirajan_13a_ASD_discovery_cases-12033.p1
 
 
 Unknown
 Simplex
 Unknown
 RNU6-668P,TRIM60P14,FAM218BP,NACA3P,FAM218A,TRIM75P,TRIM61,SMIM31,APELA,TRIM60,TMEM192,KLHL2
 
 girirajan_13a_ASD_discovery_cases-AU0962303
 
 
 Unknown
 Multiplex
 Unknown
 ANP32C,MARCH1
 
 girirajan_13b_ASD_discovery_cases-45804101669
 aCGH (Agilent hotspot 2x400K)
 
 Paternal
 Unknown
 Unknown
 RNU4-87P,GK3P,MIR578,HADHAP1,SCGB1D5P,NOL8P1,RNA5SP170,RNA5SP171,RN7SL776P,PHBP14,RN7SKP188,BTF3L4P4,RNU6-1336P,MSMO1,LINC01179,TMEM192,KLHL2,CPE,TLL1,SPOCK3,ANXA10,DDX60,DDX60L,PALLD
 
 girirajan_13b_ASD_discovery_cases-45804101669
 
 
 Unknown
 Unknown
 Unknown
 NOL8P1,RNA5SP170,LINC01179,TLL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005221
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RN7SKP105,ANP32C,MARCH1
 
 krumm_13_ASD_discovery_cases-case13385.p1
 
 
 Paternal
 Simplex
 Segregated
 ANXA10
 
 krumm_15_ASD_discovery_cases-case12033.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FAM218A,TRIM75P,TRIM61,TRIM60,TMEM192,KLHL2
 
 larson_17_ASD_discovery_cases-case49
 
 
 Unknown
 
 Unknown
 RNY4P17,CBR4
 
 leppa_16_ASD_discovery_cases-AU0962303
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected sibling)
 ANP32C,MARCH1
 
 mosca_16_DCD_discovery_cases-case116703
 qPCR
 
 De novo
 Multi-generational
 Unknown
 
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
 
 
 Maternal
 Multi-generational
 Unknown
 
 
 pinto_10_ASD_discovery_cases-case5125_3
 Agilent1M
 
 paternal
 NA
 NA
 
 
 prasad_12_ASD_discovery_cases-case143189
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case56040
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case71182
 
 
 Unknown
 Unknown
 Unknown
 SPOCK3
 
 qiao_09_ASD_discovery_cases-case10
 qPCR
 
 Maternal
 Simplex
 
 MARCH1,ANP32C
 
 qiao_12_ASD_discovery_cases-case05-157A
 QMPSF
 
 Maternal
 Unknown
 Unknown
 MARCH1,ANP32C,TRIM61,FAM218A,TRIM60,TMEM192,KLHL2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1052-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ANP32C,MARCH1
 
 sanders_11_ASD_discovery_cases-11080.p1
 
 
 Maternal
 Simplex (trio)
 NA
 NACA3P,FAM218A,TRIM61
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 MARCH1
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NACA3P,FAM218A,TRIM61
 
 sanders_11_ASD_discovery_cases-11264.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11410.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11479.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11709.p1
 
 
 Paternal
 Simplex (trio)
 NA
 FAM218A,TRIM61
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 NACA3P,FAM218A,TRIM61
 
 sanders_11_ASD_discovery_cases-11901.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01179
 
 sanders_11_ASD_discovery_cases-12033.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-668P,TRIM60P14,FAM218BP,NACA3P,FAM218A,TRIM75P,TRIM61,SMIM31,APELA,TRIM60,TMEM192
 
 sanders_11_ASD_discovery_cases-12038.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12102.p1
 
 
 Maternal
 Simplex (trio)
 NA
 NACA3P,FAM218A,TRIM61
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ANXA10
 
 sanders_11_ASD_discovery_cases-12437.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12581.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12598.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12618.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SPOCK3
 
 sanders_11_ASD_discovery_cases-12964.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 NACA3P,FAM218A,TRIM61
 
 sanders_11_ASD_discovery_cases-13152.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 NACA3P,FAM218A,TRIM61
 
 sanders_11_ASD_discovery_cases-13233.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ANXA10
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-284P
 
 yuen_17_ASD_discovery_cases-case2-0503-003
 Affymetrix CytoScan HD
 
 Maternal
 Multiplex
 Possibly segregated
 NOL8P1,RNA5SP170,RNA5SP171,RN7SL776P,PHBP14,RN7SKP188,BTF3L4P4,RNU6-1336P,LINC01179,TLL1,SPOCK3,ANXA10,DDX60,DDX60L,PALLD
 
 yuen_17_ASD_discovery_cases-case2-0503-004
 Affymetrix CytoScan HD
 
 Maternal
 Multiplex
 Possibly segregated
 NOL8P1,RNA5SP170,RNA5SP171,RN7SL776P,PHBP14,RN7SKP188,BTF3L4P4,RNU6-1336P,LINC01179,TLL1,SPOCK3,ANXA10,DDX60,DDX60L,PALLD
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023422_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB149228_1007853581
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB485082_1007853837
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB536696_1007853709
 
 
  Unknown
 
 
  MARCH1
 
engchuan_15_ASD_discovery_controls-controlB553894_1007850188
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB826617_0067942631
 
 
  Unknown
 
 
  MARCH1
 
engchuan_15_ASD_discovery_controls-controlB979208_1007842459
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901105_901105
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901250_901250
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902572_902572
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902858_902858
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split2119
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SPOCK3(dist=659606),ANXA10(dist=25934)
 
krumm_15_ASD_discovery_controls-control12033.s1
  Illumina 1MDuo
 
  Maternal
 
 
  FAM218A,TRIM75P,TRIM61,TRIM60,TMEM192
 
poultney_13_ASD_discovery_controls-control05C43962
 
 
  Unknown
 
 
  MSMO1,KLHL2
 
sanders_11_ASD_discovery_controls-11101.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NACA3P,FAM218A,TRIM61
 
sanders_11_ASD_discovery_controls-11410.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ANXA10
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-668P,TRIM60P14,FAM218BP,NACA3P,FAM218A,TRIM75P,TRIM61,SMIM31,APELA,TRIM60,TMEM192
 
sanders_11_ASD_discovery_controls-11810.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11911.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11966.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12033.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-668P,TRIM60P14,FAM218BP,NACA3P,FAM218A,TRIM75P,TRIM61,SMIM31,APELA,TRIM60,TMEM192,KLHL2
 
sanders_11_ASD_discovery_controls-12113.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12233.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12403.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12924.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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