geno logo
     HELP     Sign In

Quick Links

TOOLS

3p22.3CNV Type: Deletion-Duplication


Largest CNV size: 314901 bp

Statistics Box:
Number of Reports: 14


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
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
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
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_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 2398
 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
 1004046
 2
 15
 17
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 89745
 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
 1577
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 96882
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 314901
 1
 1
 2
 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
 132838
 0
 1
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 134185
 0
 5
 5
 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
 136389
 3
 0
 3
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 643044
 1
 0
 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
 102594
 0
 2
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 188057
 12
 4
 16
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 118725
 1
 1
 2
 wisniowiecka-kowalnik_12_ASD_discovery_cases
 ASD patients from 132 simplex and 13 multiplex families of Polish descent
 145
 Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
 Range, 3-26 yrs.
 84.83% Male
 1200000
 0
 1
 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
 178110
 4
 10
 14
 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
 89745
 0
 2
 2
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 1577
 0
 3
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 95101
 0
 2
 2
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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.
 
 34758
 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)
 156171
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 136389
 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.
 
 134184
 8
 4
 12
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 118725
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 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)
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 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
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 Long-range PCR, qPCR
 wisniowiecka-kowalnik_12_ASD_discovery_cases
  Polish
 aCGH
  OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
 
 BCM web-based software, custom-designed IMiD-web2py software
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  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
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_cases-caseREACH000496
 N/A
 F
 ASD
 Case from REACH cohort
 
 33654759
 33657157
  2399
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1050_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14328_4420
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35770109
 35897303
  127195
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case18109_303
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20103_1473001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 34506997
 35511043
  1004047
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3049_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32541243
 32576483
  35241
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3216_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35903290
  140172
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3491_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3561_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4176_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35889582
  126464
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4219_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32447042
 32531785
  84744
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4517_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35770109
 35897303
  127195
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5133_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5137_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5142_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5391_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5515_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5530_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case1869
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 35846872
 35936616
  89745
 Unknown
 Duplication
 No
  krumm_13_ASD_discovery_cases-case13393.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13393. SRS score of 59.
 Full-scale IQ (FSIQ) score of 77.
 35792381
 35793958
  1578
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11933.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32357372
 32454254
  96883
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-NA0044-000
 NA
 M
 ASD
 NA
 NA
 35596804
 35911704
  314901
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0021-008
 NA
 M
 ASD
 NA
 NA
 36094469
 36199413
  104945
 GRCh38
 Deletion
 Yes
  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.
 
 34642506
 34775343
  132838
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1050_3
 NA
 F
 Autism
 Verbal
 No MR
 35763119
 35897303
  134185
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5133_3
 NA
 M
 ASD
 NA
 NA
 35763119
 35897303
  134185
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5137_3
 NA
 M
 ASD
 NA
 NA
 35763119
 35897303
  134185
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5391_3
 NA
 M
 ASD
 NA
 NA
 35763119
 35897303
  134185
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5515_3
 NA
 M
 ASD
 NA
 NA
 35763119
 35897303
  134185
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case121571
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 36227876
 36312904
  85029
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case146911L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 34968537
 35104925
  136389
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case58629
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 32927532
 32957852
  30321
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_325
 15 yrs.
 M
 Intellectual disability
 Short stature. CNV inherited from unaffected parent.
 Intellectual disability
 34858907
 35501950
  643044
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1198-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: yes. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 35781787
 35884380
  102594
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP95-051a1
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 35781787
 35884380
  102594
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11120.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 128
 36360142
 36368109
  7968
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11312.p1
 10
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
 34693503
 34754096
  60594
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11415.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
 35763119
 35897303
  134185
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11475.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
 35312554
 35330424
  17871
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11563.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
 35008328
 35196385
  188058
 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
 36354106
 36368109
  14004
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11793.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 129
 32359836
 32362567
  2732
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11933.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
 32268638
 32453345
  184708
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 35770109
 35897303
  127195
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12101.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
 36090048
 36101858
  11811
 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
 32359836
 32362567
  2732
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 36210223
 36304277
  94055
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12358.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
 34695565
 34772609
  77045
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12377.p1
 17.8
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 67; verbal IQ, 93
 32912428
 32943994
  31567
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12717.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 86
 36354106
 36368109
  14004
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13043.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 127; verbal IQ, 111
 36360142
 36368109
  7968
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case2-1213-003
 N/A
 M
 ASD
 N/A
 N/A
 34967553
 35086277
  118725
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case3-0100-000
 N/A
 M
 ASD
 N/A
 N/A
 35070195
 35078240
  8046
 GRCh38
 Duplication
 Yes
  wisniowiecka-kowalnik_12_ASD_discovery_cases-patient8
 7
 M
 Autism
 Autism, abnormal speech, and cognitive development
 
 33657891
 34845336
  1187446
 GRCh38
 Duplication
 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-controlB228990_1007873300
  N/A
  N/A
  Control
  No previous psychiatric history
 
  36210223
  36302987
  92765
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB343432_1007844537
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35763119
  35897303
  134185
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB434334_1007853771
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35763119
  35897303
  134185
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB695562_0067942649
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35763119
  35903290
  140172
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB697076_1007841045
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35763119
  35897303
  134185
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900039_900039
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35763119
  35897303
  134185
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900115_900115
  N/A
  N/A
  Control
  No previous psychiatric history
 
  36048072
  36226182
  178111
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900443_900443
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35763119
  35897303
  134185
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900812_900812
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35759275
  35897303
  138029
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901230_901230
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35763119
  35897303
  134185
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902584_902584
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35770109
  35897303
  127195
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902770_902770
  N/A
  N/A
  Control
  No previous psychiatric history
 
  36210223
  36302987
  92765
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902801_902801
  N/A
  N/A
  Control
  No previous psychiatric history
 
  34695565
  34770903
  75339
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
  N/A
  N/A
  Control
  No previous psychiatric history
 
  35759275
  35897303
  138029
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1355
  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
 
  35846872
  35925872
  79001
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1792
  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
 
  35846872
  35936616
  89745
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11501.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11501. SRS score of 48.
 
  35792381
  35793958
  1578
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12383.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12383. SRS score of 72.
 
  35792381
  35793958
  1578
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control13393.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13393. SRS score of 47.
 
  35792381
  35793958
  1578
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11030.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  35743838
  35793958
  50121
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11933.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32357372
  32452473
  95102
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C28309
 
 
  Control
 
 
  34239392
  34274149
  34758
  Unknown
  Duplication
 
  poultney_13_ASD_discovery_controls-control04C29036A
  N/A
  M
  Control
  NIMH Control (NIMH ID 93336)
 
  33051756
  33207926
  156171
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11030.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  35763119
  35897303
  134185
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11120.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  36360142
  36368109
  7968
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11247.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  34693503
  34754096
  60594
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11475.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  35318715
  35330424
  11710
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11501.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  35791385
  35895124
  103740
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11592.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  36360142
  36368109
  7968
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12101.s1
  5.1
  M
  Control (matched sibling)
  NA
  NA
  36090048
  36101858
  11811
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12358.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  34695565
  34759418
  63854
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12377.s1
  20.6
  F
  Control (matched sibling)
  NA
  NA
  32912428
  32955017
  42590
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12383.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  35770109
  35897303
  127195
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12784.s1
  8.4
  M
  Control (matched sibling)
  NA
  NA
  36360142
  36368109
  7968
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  35967069
  35979801
  12733
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseREACH000496
 Determined to be false positive after validation
 
 Paternal
 
 
 CLASP2
 
 engchuan_15_ASD_discovery_cases-case1050_3
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case14328_4420
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case18109_303
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case20103_1473001
 
 
 Unknown
 
 
 FECHP1,KRT8P18,RNU6-243P,LINC01811
 
 engchuan_15_ASD_discovery_cases-case3049_3
 
 
 Unknown
 
 
 DYNC1LI1
 
 engchuan_15_ASD_discovery_cases-case3216_3
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case3491_3
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case3561_3
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case4176_1
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case4219_1
 
 
 Unknown
 
 
 MIR548AY,CMTM7,CMTM6,DYNC1LI1
 
 engchuan_15_ASD_discovery_cases-case4517_1
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case5133_3
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case5137_3
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case5142_4
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case5391_3
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case5515_3
 
 
 Unknown
 
 
 ARPP21
 
 engchuan_15_ASD_discovery_cases-case5530_4
 
 
 Unknown
 
 
 ARPP21
 
 kanduri_15_ASD_discovery_cases-case1869
 
 
 Paternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, ARPP21(dist=10884),STAC(dist=485481)
 
 krumm_13_ASD_discovery_cases-case13393.p1
 
 
 Maternal
 Simplex
 Not segregated
 ARPP21
 
 krumm_15_ASD_discovery_cases-case11933.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CMTM7,CMTM8
 
 marshall_08_ASD_discovery_cases-NA0044-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 MIR128-2,ARPP21,ARPP21-AS1
 
 marshall_08_ASD_discovery_cases-SK0021-008
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RFC3P1
 
 mosca_16_DCD_discovery_cases-case116703
 qPCR
 
 Paternal
 Multi-generational
 Unknown
 
 
 pinto_10_ASD_discovery_cases-case1050_3
 Illumina550;Affy5.0
 
 paternal
 NA
 NA
 ARPP21
 
 pinto_10_ASD_discovery_cases-case5133_3
 Agilent1M
 
 maternal
 NA
 NA
 ARPP21
 
 pinto_10_ASD_discovery_cases-case5137_3
 Agilent1M
 
 paternal
 NA
 NA
 ARPP21
 
 pinto_10_ASD_discovery_cases-case5391_3
 Agilent1M
 
 paternal
 NA
 NA
 ARPP21
 
 pinto_10_ASD_discovery_cases-case5515_3
 Agilent1M
 
 maternal
 NA
 NA
 ARPP21
 
 prasad_12_ASD_discovery_cases-case121571
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case146911L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case58629
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_325
 
 
 Paternal
 
 Unknown
 FECHP1,KRT8P18,RNU6-243P
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1198-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ARPP21
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP95-051a1
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ARPP21
 
 sanders_11_ASD_discovery_cases-11120.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11312.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11415.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ARPP21
 
 sanders_11_ASD_discovery_cases-11475.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11563.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11592.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11793.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 CMTM8
 
 sanders_11_ASD_discovery_cases-11933.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CMTM7,CMTM8
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ARPP21
 
 sanders_11_ASD_discovery_cases-12101.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Unknown
 Simplex (trio)
 NA
 CMTM8
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12358.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12377.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12717.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13043.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 walker_13_ASD_discovery_cases-case2-1213-003
 Long-range PCR or qPCR
 
 Paternal
 Simplex
 Segregated
 
 
 walker_13_ASD_discovery_cases-case3-0100-000
 Long-range PCR or qPCR
 
 Maternal
 Simplex
 Segregated
 
 
 wisniowiecka-kowalnik_12_ASD_discovery_cases-patient8
 FISH
 
 Paternal
 Unknown
 Unknown
 SDAD1P3,PDCD6IP,LINC01811,CLASP2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB228990_1007873300
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB343432_1007844537
 
 
  Unknown
 
 
  ARPP21
 
engchuan_15_ASD_discovery_controls-controlB434334_1007853771
 
 
  Unknown
 
 
  ARPP21
 
engchuan_15_ASD_discovery_controls-controlB695562_0067942649
 
 
  Unknown
 
 
  ARPP21
 
engchuan_15_ASD_discovery_controls-controlB697076_1007841045
 
 
  Unknown
 
 
  ARPP21
 
engchuan_15_ASD_discovery_controls-controlHABC_900039_900039
 
 
  Unknown
 
 
  ARPP21
 
engchuan_15_ASD_discovery_controls-controlHABC_900115_900115
 
 
  Unknown
 
 
  RFC3P1
 
engchuan_15_ASD_discovery_controls-controlHABC_900443_900443
 
 
  Unknown
 
 
  ARPP21
 
engchuan_15_ASD_discovery_controls-controlHABC_900812_900812
 
 
  Unknown
 
 
  ARPP21
 
engchuan_15_ASD_discovery_controls-controlHABC_901230_901230
 
 
  Unknown
 
 
  ARPP21
 
engchuan_15_ASD_discovery_controls-controlHABC_902584_902584
 
 
  Unknown
 
 
  ARPP21
 
engchuan_15_ASD_discovery_controls-controlHABC_902770_902770
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902801_902801
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
 
 
  Unknown
 
 
  ARPP21
 
kanduri_15_ASD_discovery_controls-control_split1355
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ARPP21(dist=10884),STAC(dist=496225)
 
kanduri_15_ASD_discovery_controls-control_split1792
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ARPP21(dist=10884),STAC(dist=485481)
 
krumm_13_ASD_discovery_controls-control11501.s1
 
 
  Paternal
  Simplex
 
  ARPP21
 
krumm_13_ASD_discovery_controls-control12383.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  ARPP21
 
krumm_13_ASD_discovery_controls-control13393.s1
 
 
  Maternal
  Simplex
 
  ARPP21
 
krumm_15_ASD_discovery_controls-control11030.s1
  Illumina 1M
 
  Paternal
 
 
  MIR128-2,ARPP21
 
krumm_15_ASD_discovery_controls-control11933.s1
  Illumina 1MDuo
 
  Paternal
 
 
  CMTM7,CMTM8
 
nord_11_ASD_discovery_controls-04C28309
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control04C29036A
 
 
  Unknown
 
 
  SUMO2P10,RN7SL296P,TMPPE,CRTAP,GLB1,SUSD5
 
sanders_11_ASD_discovery_controls-11030.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ARPP21
 
sanders_11_ASD_discovery_controls-11120.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11247.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11475.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11501.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ARPP21
 
sanders_11_ASD_discovery_controls-11592.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12101.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12358.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12377.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CCR4
 
sanders_11_ASD_discovery_controls-12383.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ARPP21
 
sanders_11_ASD_discovery_controls-12784.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

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