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13q34CNV Type: Deletion-Duplication


Largest CNV size: 392072 bp

Statistics Box:
Number of Reports: 19



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 
 
 284289
 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
 
 
 392072
 0
 3
 3
 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
 
 
 109358
 2
 0
 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
 364811
 9
 11
 20
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 367137
 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
 3221006
 2
 6
 8
 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
 99
 1
 0
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 557543
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 118303
 2
 3
 5
 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
 349000
 0
 2
 2
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 4213684
 13
 20
 33
 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
 89483
 0
 3
 3
 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)
 22941
 0
 4
 4
 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
 135947
 1
 0
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 187523
 0
 1
 1
 charalsawadi_14_ASD/ID_discovery_cases
 A cross-sectional, prospective cohort study of Thai ASD cases from January 2006 to December 2009
 203
 Cases met DSM-IV criteria for autistic disorder (n=161) or PDD-NOS (n=42); cases with dysmorphic features compatible with known genetic syndromes, a history of perinatal complications, low birth weight, or prematurity were excluded.
 N/A
 N/A
 2110000
 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
 392071
 1
 9
 10
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 342999
 0
 10
 10
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 ± 4.04 yrs.
 89.3% Male
 120940
 2
 1
 3

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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.
 
 40904
 2
 1
 3
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 161917
 11
 4
 15
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 166336
 0
 1
 1
 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
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 557543
 NA
 NA
 NA
 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)
 118303
 0
 0
 0
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 1
 5
 6
 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
 143809
 0
 4
 4
 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)
 22941
 0
 3
 3
 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
 75033
 0
 9
 9
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 165170
 0
 10
 10
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 ± 10.12 yrs.
 48.0% Male
 120940
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affy 500K
 dChip, CNAG, & GEMCA
 
 qPCR, qmPCR
 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), and/or array SNP (Affy 500K)
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 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
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs ACGH (SignatureChipoWG; n=9207) or oligoarray (SignatureChipOS; n=23,380)
 
 
 FISH, aCGH, or confirmation by inheritance
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 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
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH (n=45,744 from Signature Genomic Labs)
  SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
 
 
 FISH
 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
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M v.1 and v3. arrays
 
 
 qPCR, MLPA, and/or long-range PCR
 charalsawadi_14_ASD/ID_discovery_cases
  Thai
 G-banded karyotyping
 
 
 
 FISH, solid phase hybridization (Illumina HumanCytoSNP-12 v2.1)
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
 Affymetrix Genotyping Console v4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affy 500K
  dChip, CNAG, & GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affy 500K
  dChip, CNAG, & GEMCA
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  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
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
  Affymetrix Genotyping Console v4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  marshall_08_ASD_discovery_cases-MM0295-003
 NA
 M
 ASD
 NA
 NA
 113361712
 113646000
  284289
 NCBI Build35
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5013_3
 NA
 M
 ASD
 NA
 NA
 110475430
 110549283
  73854
 
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5135_3
 NA
 M
 ASD
 NA
 NA
 113366240
 113758311
  392072
 
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5145_4
 NA
 F
 ASD
 NA
 NA
 113569055
 113601653
  32599
 
 Duplication
 Yes
  gai_11_ASD_discovery_cases-AU1327304
 
 
 Autism
 
 
 113133805
 113243162
  109358
 
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1327305
 
 
 Autism
 
 
 113132512
 113237619
  105108
 
 Deletion
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 113032851
 113050223
  17372
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11093.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
 113565584
 113568626
  3042
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 110480001
 110549283
  69282
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11122.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
 109531103
 109559522
  28419
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11196.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
 114077867
 114123122
  45255
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11246.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
 112358548
 112373940
  15392
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11257.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
 114025158
 114063831
  38673
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11285.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5
 110475430
 110497708
  22278
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11834.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
 113583547
 113600269
  16722
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 114118455
 114123122
  4667
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 113281796
 113285662
  3866
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12424.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
 112820708
 112822469
  1761
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12426.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 109540198
 109559522
  19324
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12434.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
 113758311
 114123122
  364811
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12606.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
 109540198
 109559522
  19324
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12623.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95
 112358548
 112373940
  15392
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12798.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
 113758311
 113760119
  1808
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12933.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 41; verbal IQ, 44
 110481467
 110497708
  16241
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13001.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
 110478381
 110547117
  68736
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13063.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
 113576143
 113600269
  24126
 hg18
 Duplication
 No
  levy_11_ASD_discovery_cases-12434.p1
 NA
 M
 ASD
 NA
 NA
 113758486
 114125622
  367137
 hg18
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005735
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 110889744
 114110750
  3221006
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004843
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 110991514
 113648401
  2656887
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002252
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 111995237
 113338588
  1343351
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004734
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 112786467
 114110750
  1324283
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001770
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 113030705
 113373792
  343087
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004064
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 113150643
 114110891
  960248
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 113474906
 114126525
  651619
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 113976035
 114077122
  101087
 NCBI36
 Duplication
 Yes
  celestino-soper_11_ASD_discovery_cases-11399
 NA
 M
 ASD
 NA
 NA
 111767870
 111767969
  99
 hg19
 Deletion
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case38025
 2 mos.
 F
 MCA
 Deceased. Dysmorphic features: low-set ears with folded helices. Congenital anomalies: severe congenital heart defects (tetralogy of Fallot, absent pulmonary valve, ventricular septal defect), butterfly vertebrae, 13 rib pairs, supernumerary nipple. Family history: non-contributory.
 NA
 113086471
 113644014
  557543
 hg18
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case79449
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 110018678
 110044064
  25387
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case87285
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 111741930
 111751469
  9540
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case122687L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 113593752
 113657414
  63663
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case154267L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 112711563
 112829865
  118303
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60966-L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 113888062
 113905108
  17047
 
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12434.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
 113770000
 114120000
  349000
 hg18
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13987.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
 109750000
 110040000
  291000
 hg18
 Duplication
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-248205
 N/A
 M
 Developmental delay/intellectual disability and epilepsy
 Database: DECIPHER. Indication for study: intellectual disability/developmental delay, seizures, speech delay, tall stature, proportionate
 Developmental delay/intellectual disability
 113133843
 115085141
  1951298
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-248940
 N/A
 M
 Developmental delay/intellectual disability
 Database: DECIPHER. Indication for study: intellectual disability/developmental delay.
 Developmental delay/intellectual disability
 110982428
 115059020
  4076592
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-250433
 N/A
 M
 Developmental delay/intellectual disability
 Database: DECIPHER. Indication for study: Broad base to nose, constipation, flat arches of feet, headache/migraine/body pain, hypertelorism, intellectual disability/developmental delay, palpebral fissures slant up, philtrum, skin pigment, speech delay, thick lower and upper lip, thick stiff skin, slender build, umbilical hernia
 Developmental delay/intellectual disability
 113457202
 115109878
  1652676
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-260546
 N/A
 F
 DD/ID/MCA
 Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
 
 112228616
 115058961
  2830345
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC16621
 N/A
 M
 Intellectual disability
 Database: Signature. Indication for study: intellectual disability, Multiple Congenital Anomalies, karyotype: der(13)t(13;20) w/~12 Mb 20p dup
 Intellectual disability
 113327854
 115169878
  1842024
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC24735
 N/A
 M
 Developmental delay
 Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, karyotype: der(13)t(13;17) w/~4Mb 17q dup
 Developmental delay
 110956194
 115169878
  4213684
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC28402
 N/A
 F
 MCA
 Database: Signature. Indication for study: Multiple Anomalies
 
 111223453
 115085141
  3861688
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36677
 N/A
 F
 DD/ID/MCA
 Database: Signature. Indication for study: Trisomy 13
 
 113704380
 115077941
  1373561
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC37523
 N/A
 F
 Intellectual disability
 Database: Signature. Indication for study: Dysmorphic Features, intellectual disability, karyotype: der(13)t(13;16) w/~3Mb 6q gain
 Intellectual disability
 114556707
 115169878
  613171
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38199
 N/A
 F
 Dysmorphic features
 Database: Signature. Indication for study: Dysmorphic Features, 46,XX,add(13)(q34), karyotype: der(13)t(X;13) w/~30 Mb Xp gain
 
 114993429
 115077941
  84512
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC44799
 N/A
 M
 DD/ID/MCA
 Database: Signature. Indication for study: Family history of Congenital Neuropathy, R/O Digeorge, karyotype: der(13)t(7;13) w/~3Mb 7p dup
 
 113005707
 115091736
  2086029
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC51160
 N/A
 F
 MCA
 Database: Signature. Indication for study: Multiple Congenital Anomalies, karyotype: der(13)t(13;20) w/~14 Mb 20q del
 
 111818813
 115091736
  3272923
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC64285
 N/A
 M
 Developmental delay
 Database: Signature. Indication for study: Developmental Delay, karyotype: der(13)t(4;13) w/~14Mb 4p dup
 Developmental delay
 113891904
 115091736
  1199832
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient159
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient160
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient161
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient162
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient163
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient164
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient165
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient166
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient167
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient168
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient169
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient170
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient171
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient172
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient173
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient174
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient175
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient176
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient177
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient178
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 hg19
 Duplication
 N/A
  krumm_13_ASD_discovery_cases-case11196.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11196. SRS score of 80.
 Full-scale IQ (FSIQ) score of 112.
 115002273
 115091756
  89483
 hg19
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case11808.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 11808. SRS score of 71.
 Full-scale IQ (FSIQ) score of 84.
 113979975
 113980406
  431
 hg19
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13063.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13063. SRS score of 74.
 Full-scale IQ (FSIQ) score of 49.
 114514708
 114535461
  20753
 hg19
 Duplication
 No (not tested)
  poultney_13_ASD_discovery_cases-case00HI1548A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU076705; NDAR ID NDAR_INVLM604GMM)
 
 114514707
 114537647
  22941
 hg19
 Duplication
 No
  poultney_13_ASD_discovery_cases-case03HI2537A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0934302; NDAR ID NDAR_INVMY062BPQ)
 
 114514707
 114535727
  21021
 hg19
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI4355A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1525302; NDAR ID NDAR_INVCB608CF5)
 
 114514707
 114535727
  21021
 hg19
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0631B
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU011105; NDAR ID NDAR_INVZH522MU2)
 
 114514707
 114537647
  22941
 hg19
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1477-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 110178685
 110314631
  135947
 hg18
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case9879_202
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 113094274
 113281796
  187523
 hg18
 Duplication
 Yes
  charalsawadi_14_ASD/ID_discovery_cases-case1
 41 mos.
 M
 ASD and ID
 Initial diagnosis of PDD-NOS based on DSM-IV criteria; diagnosis of ASD confirmed using Thai version of ADOS. Birth/neonatal history: born full-term by C-section due to cephalopelvic disproportion after uneventful pregnancy; birth weight of 2600 g(10th-25th %ile), relative to Thai population; no immediate complications after birth. Developmental milestones: delayed speech; assessments of gross and fine motor developmental milestones were unremarkable. Behavioral/psychiatric evaluation: hyperactivity. Dysmorphic features: none. Growth parameters: weight of 14.5 kg (50th-75th %ile), height of 97 cm (50th-75th %ile), head circumference of 48 cm (10th-25th %ile). Additional genetic information: case with ring chromosome 13 (detected by G-banded karyotyping; observed in all 50 analyzed metaphase lymphocytes). Karyotype: 46,XY,r(13)(p11.2q34).ish del(13)(q34)(RP11-139P6-).arr[hg19] 13q34(112,996,118-115,106,996)x1 dn.
 Mild mental impairment in areas of quantitative reasoning and visual-spatial processing; IQ of 60 using a non-verbal form of Stanford-Binet Intelligence Scale, 5th edition; mildly impaired adaptive behavior on Vineland Adaptive Behavior Scales.
 112996118
 115106996
  2110000
 NCBI Build37/UCSC hg19
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14344_4580
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 110478381
 110557519
  79138
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14378_4910
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 110466673
 110549283
  82610
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21035_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 109522711
 109559522
  36811
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2289_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 110478381
 110549283
  70902
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3159_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 110346262
 110576014
  229752
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4463_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 110480001
 110549283
  69282
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4508_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 113758311
 113848234
  89923
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5013_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 110475430
 110549283
  73853
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5135_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 113366240
 113758311
  392071
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5145_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 113569055
 113601653
  32598
 hg18
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11196.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 115002119
 115091756
  89637
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11257.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 115007595
 115047321
  39726
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11834.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 114514708
 114537645
  22937
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12220.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 114514708
 114535461
  20753
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12434.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 114748757
 115091756
  342999
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13063.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 114514708
 114535461
  20753
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13106.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 114514708
 114537645
  22937
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13294.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 114514708
 114537645
  22937
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13796.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 115007595
 115037918
  30323
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13987.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 111009818
 111279894
  270076
 hg19
 Duplication
 Yes
  yin_16_ASD_discovery_cases-case456
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 111369656
 111406396
  36741
 GRCh37/hg19
 Deletion
 No
  yin_16_ASD_discovery_cases-case457
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 114987446
 115108385
  120940
 GRCh37/hg19
 Deletion
 No
  yin_16_ASD_discovery_cases-case458
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 115064635
 115108385
  43751
 GRCh37/hg19
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  nord_11_ASD_discovery_controls-04C27219
 
 
  Control
 
 
  109227139
  109239301
  12163
 
  Deletion
 
  nord_11_ASD_discovery_controls-04C27504
 
 
  Control
 
 
  110176181
  110191110
  14930
 
  Deletion
 
  nord_11_ASD_discovery_controls-04C28078
 
 
  Control
 
 
  114013930
  114054833
  40904
 
  Duplication
 
  sanders_11_ASD_discovery_controls-11033.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  113565584
  113568626
  3042
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11041.s1
  15
  M
  Control (matched sibling)
  NA
  NA
  113565584
  113568626
  3042
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11085.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  109540198
  109559522
  19324
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11190.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  109966489
  110128406
  161917
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11256.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  109540198
  109559522
  19324
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11285.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  110475430
  110497708
  22278
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11488.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  113565584
  113568626
  3042
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11834.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  109540198
  109559522
  19324
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12015.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  110481467
  110497708
  16241
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12048.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  110478381
  110549283
  70902
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12426.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  109540198
  109559522
  19324
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12623.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  112358548
  112373940
  15392
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12894.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  109540198
  109559522
  19324
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12933.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  110481467
  110497708
  16241
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13001.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  110478381
  110549283
  70902
  hg18
  Duplication
  No
  levy_11_ASD_discovery_controls-11190.s1
  NA
  F
  Control
  NA
  NA
  109965016
  110131351
  166336
  hg18
  Duplication
  No
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control15
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  hg19
  Deletion
  N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control16
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  hg19
  Duplication
  N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control17
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  hg19
  Duplication
  N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control18
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  hg19
  Duplication
  N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control19
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  hg19
  Duplication
  N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control20
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  hg19
  Duplication
  N/A
  krumm_13_ASD_discovery_controls-control11190.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11190. SRS score of 55.
 
  111176011
  111319820
  143809
  hg19
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control11196.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11196. SRS score of 53.
 
  115007595
  115091756
  84161
  hg19
  Duplication
  No (False Positive)
  krumm_13_ASD_discovery_controls-control12829.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12829. SRS score of 70.
 
  114138154
  114175048
  36894
  hg19
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control13063.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13063. SRS score of 41.
 
  114514708
  114531684
  16976
  hg19
  Duplication
  No (not tested)
  poultney_13_ASD_discovery_controls-control05C39645A
  N/A
  F
  Control
  NIMH Control (NIMH ID 69540)
 
  114514707
  114535727
  21021
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C41452A
  N/A
  M
  Control
  NIMH Control (NIMH ID 70653)
 
  114514707
  114535727
  21021
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C42565A
  N/A
  F
  Control
  NIMH Control (NIMH ID 16442)
 
  114514707
  114537647
  22941
  hg19
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902547_902547
  N/A
  N/A
  Control
  No previous psychiatric history
 
  110480001
  110547117
  67116
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900977_900977
  N/A
  N/A
  Control
  No previous psychiatric history
 
  110478381
  110553414
  75033
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
  N/A
  N/A
  Control
  No previous psychiatric history
 
  110478381
  110549283
  70902
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900023_900023
  N/A
  N/A
  Control
  No previous psychiatric history
 
  110478381
  110549062
  70681
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB983717_1007842477
  N/A
  N/A
  Control
  No previous psychiatric history
 
  113590721
  113656958
  66237
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB806145_1007873615
  N/A
  N/A
  Control
  No previous psychiatric history
 
  110480001
  110549283
  69282
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB640981_1007874885
  N/A
  N/A
  Control
  No previous psychiatric history
 
  113966676
  114003977
  37301
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB394441_1007874856
  N/A
  N/A
  Control
  No previous psychiatric history
 
  114025158
  114071257
  46099
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB182878_1007875343
  N/A
  N/A
  Control
  No previous psychiatric history
 
  112811789
  112846885
  35096
  hg18
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11107.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  115010354
  115051877
  41523
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11190.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  111164280
  111329450
  165170
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11196.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  115002119
  115091756
  89637
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12220.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  114523836
  114535461
  11625
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12829.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  114138154
  114175048
  36894
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13063.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  114514708
  114535461
  20753
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14063.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  113699584
  113731525
  31941
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14065.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  115016023
  115047321
  31298
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14181.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  114514708
  114537645
  22937
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14417.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  114751085
  114839312
  88227
  hg19
  Duplication
  Yes

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 marshall_08_ASD_discovery_cases-MM0295-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 GRK1,FLJ44054,LOC100506394,GAS6,FLJ41484,FAM70B
 
 pinto_10_ASD_discovery_cases-case5013_3
 Agilent1M
 
 maternal
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case5135_3
 Agilent1M
 
 maternal
 NA
 NA
 ATP4B,FLJ44054,GRK1,FAM70B,RASA3,GAS6
 
 pinto_10_ASD_discovery_cases-case5145_4
 Agilent1M
 
 paternal
 NA
 NA
 FAM70B,GAS6
 
 gai_11_ASD_discovery_cases-AU1327304
 
 
 Inherited
 
 
 ADPRHL1, DCUN1D2, TMCO3
 
 gai_11_ASD_discovery_cases-AU1327305
 
 
 Inherited
 
 
 ADPRHL1, DCUN1D2, TMCO3
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 GRTP1
 
 sanders_11_ASD_discovery_cases-11093.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GAS6 intronic
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11122.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11196.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 UPF3A, ZNF828
 
 sanders_11_ASD_discovery_cases-11246.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf35 intronic
 
 sanders_11_ASD_discovery_cases-11257.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CDC16
 
 sanders_11_ASD_discovery_cases-11285.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11834.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FAM70B, GAS6
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12424.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 F7
 
 sanders_11_ASD_discovery_cases-12426.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12434.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 CDC16, RASA3, UPF3A, ZNF828
 
 sanders_11_ASD_discovery_cases-12606.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12623.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf35 intronic
 
 sanders_11_ASD_discovery_cases-12798.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12933.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13001.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13063.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FAM70B, GAS6
 
 levy_11_ASD_discovery_cases-12434.p1
 
 
 Paternal
 Simplex
 Segregated
 RASA3,UPF3A,ZNF828
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005735
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004843
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002252
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004734
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001770
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004064
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CDC16,UPF3A
 
 celestino-soper_11_ASD_discovery_cases-11399
 
 
 Unknown
 Simplex
 NA
 ARHGEF7
 
 girirajan_12_ASD/DD/ID_discovery_cases-case38025
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B
 
 prasad_12_ASD_discovery_cases-case79449
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case87285
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case122687L
 
 
 Unknown
 Unknown
 Unknown
 FAM70B
 
 prasad_12_ASD_discovery_cases-case154267L
 
 
 Unknown
 Simplex
 Unknown
 F10,MCF2L,F7
 
 prasad_12_ASD_discovery_cases-case60966-L
 
 
 Unknown
 Unknown
 Unknown
 RASA3
 
 girirajan_13a_ASD_discovery_cases-12434.p1
 
 
 Unknown
 Simplex
 Unknown
 RASA3,CDC16,UPF3A,CHAMP1
 
 girirajan_13a_ASD_discovery_cases-13987.p1
 
 
 Unknown
 Simplex
 Unknown
 COL4A1,COL4A2,RAB20
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-248205
 
 
 Unknown
 Unknown
 Unknown
 TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-248940
 
 
 De novo
 Unknown
 Possibly segregated
 COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-250433
 
 
 Unknown
 Unknown
 Unknown
 ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-260546
 
 
 De novo
 Unknown
 Possibly segregated
 SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC16621
 FISH
 
 Unknown
 Unknown
 Unknown
 C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC24735
 FISH
 
 Maternal (balanced carrier)
 Unknown
 Unknown
 COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC28402
 FISH
 
 Unknown
 Unknown
 Unknown
 CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36677
 FISH
 
 Unknown
 Unknown
 Unknown
 MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC37523
 FISH
 
 Unknown
 Unknown
 Unknown
 GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38199
 FISH
 
 Unknown
 Unknown
 Unknown
 CDC16,UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC44799
 FISH
 
 Unknown
 Unknown
 Unknown
 SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC51160
 FISH
 
 Unknown
 Unknown
 Unknown
 ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC64285
 FISH
 
 Unknown
 Unknown
 Unknown
 CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient159
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient160
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient161
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient162
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient163
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient164
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient165
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient166
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient167
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient168
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient169
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient170
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient171
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient172
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient173
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient174
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient175
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient176
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient177
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient178
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF3A
 
 krumm_13_ASD_discovery_cases-case11196.p1
 
 
 Maternal
 Simplex
 Not segregated
 UPF3A, CDC16, ZNF828
 
 krumm_13_ASD_discovery_cases-case11808.p1
 
 
 Maternal
 Simplex
 Segregated
 GRTP1
 
 krumm_13_ASD_discovery_cases-case13063.p1
 
 
 Maternal
 Simplex
 Not segregated
 GAS6, FAM70B
 
 poultney_13_ASD_discovery_cases-case00HI1548A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TMEM255B,GAS6
 
 poultney_13_ASD_discovery_cases-case03HI2537A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TMEM255B,GAS6
 
 poultney_13_ASD_discovery_cases-case05HI4355A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TMEM255B,GAS6
 
 poultney_13_ASD_discovery_cases-case98HI0631B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TMEM255B,GAS6
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1477-0
 qPCR
 
 Unknown
 Unknown
 Unknown
 CR604228
 
 pinto_14_ASD_discovery_cases2-case9879_202
 qPCR
 
 Maternal
 Simplex
 (not tested)
 ADPRHL1, DCUN1D2, TMCO3
 
 charalsawadi_14_ASD/ID_discovery_cases-case1
 FISH, solid phase hybridization (Illumina HumanCytoSNP-12 v2.1)
 
 De novo
 
 
 SPACA7,TUBGCP3,ATP11AUN,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,LINC00452,RASA3,CDC16,UPF3A,CHAMP1
 
 engchuan_15_ASD_discovery_cases-case14344_4580
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14378_4910
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case21035_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case2289_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3159_3
 
 
 Unknown
 
 
 ANKRD10;ARHGEF7
 
 engchuan_15_ASD_discovery_cases-case4463_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4508_1
 
 
 Unknown
 
 
 RASA3
 
 engchuan_15_ASD_discovery_cases-case5013_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case5135_3
 
 
 Unknown
 
 
 FAM70B;FLJ44054;GAS6;GRK1
 
 engchuan_15_ASD_discovery_cases-case5145_4
 
 
 Unknown
 
 
 FAM70B;GAS6
 
 krumm_15_ASD_discovery_cases-case11196.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CDC16,UPF3A,CHAMP1,Intron (3/17),Intron (4/17),Exon (5/18),Intron (5/17),Exon (6/18),Intron (6/17),Exon (7/18),Intron (7/17),Exon (8/18),Intron (8/17),Intron (9/17),Intron (10/17),Exon (11/18),Intron (11/17),Exon (12/18),Intron (12/17),Exon (13/18),Intron (13/17),Exon (14/18),Intron (14/17),Intron (15/17),Exon (16/18),Intron (16/17),Intron (17/17),Exon (18/18),Intron (3/18),Intron (4/18),Exon (5/19),Intron (5/18),Exon (6/19),Intron (6/18),Exon (7/19),Intron (7/18),Exon (8/19),Intron (8/18),Intron (9/18),Intron (10/18),Exon (11/19),Intron (11/18),Exon (12/19),Intron (12/18),Exon (13/19),Intron (13/18),Exon (14/19),Intron (14/18),Intron (15/18),Exon (16/19),Intron (16/18),Intron (17/18),Exon (18/19),Intron (18/18),Exon (1/9),Intron (1/8),Exon (2/9),Intron (2/8),Exon (3/9),Intron (3/8),Exon (4/9),Intron (4/8),Intron (5/8),Intron (6/8),Exon (7/9),Intron (7/8),Exon (8/9),Intron (8/8),Exon (9/9),Exon (1/10),Intron (1/9),Exon (2/10),Intron (2/9),Exon (3/10),Intron (3/9),Exon (4/10),Exon (5/10),Intron (5/9),Intron (6/9),Intron (7/9),Exon (8/10),Intron (8/9),Exon (9/10),Intron (9/9),Exon (10/10),Exon (1/3),Intron (1/2),Exon (2/3),Intron (2/2),Exon (3/3)
 
 krumm_15_ASD_discovery_cases-case11257.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 CDC16,UPF3A,Intron (6/17),Exon (7/18),Intron (7/17),Exon (8/18),Intron (8/17),Exon (9/18),Intron (9/17),Intron (10/17),Exon (11/18),Intron (11/17),Exon (12/18),Intron (12/17),Exon (13/18),Intron (13/17),Exon (14/18),Intron (14/17),Exon (15/18),Intron (15/17),Exon (16/18),Intron (16/17),Exon (17/18),Intron (17/17),Exon (18/18),Intron (6/18),Exon (7/19),Intron (7/18),Exon (8/19),Intron (8/18),Exon (9/19),Intron (9/18),Intron (10/18),Exon (11/19),Intron (11/18),Exon (12/19),Intron (12/18),Exon (13/19),Intron (13/18),Exon (14/19),Intron (14/18),Exon (15/19),Intron (15/18),Exon (16/19),Intron (16/18),Exon (17/19),Intron (17/18),Exon (18/19),Intron (18/18),Exon (19/19)
 
 krumm_15_ASD_discovery_cases-case11834.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 TMEM255B,GAS6,Exon (15/15),Intron (14/14),Exon (14/15),Intron (13/14),Exon (13/15),Intron (12/14),Exon (12/15),Intron (11/14),Exon (11/15),Intron (10/14),Exon (10/15),Intron (9/14),Exon (9/15),Intron (8/14)
 
 krumm_15_ASD_discovery_cases-case12220.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TMEM255B,GAS6,Exon (15/15),Intron (14/14),Exon (14/15),Intron (13/14),Exon (13/15),Intron (12/14),Exon (12/15),Intron (11/14),Exon (11/15),Intron (10/14)
 
 krumm_15_ASD_discovery_cases-case12434.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 RASA3,CDC16,UPF3A,CHAMP1,Intron (22/23),Intron (21/23),Exon (21/24),Intron (20/23),Exon (20/24),Intron (19/23),Intron (18/23),Intron (17/23),Intron (16/23),Exon (16/24),Intron (15/23),Intron (14/23),Exon (14/24),Exon (13/24),Exon (12/24),Intron (10/23),Intron (9/23),Intron (8/23),Exon (8/24),Intron (7/23),Exon (6/24),Intron (5/23),Exon (5/24),Intron (4/23),Intron (3/23),Intron (2/23),Intron (1/23),Exon (1/24),Intron (1/17),Exon (3/18),Intron (3/17),Exon (5/18),Intron (5/17),Intron (6/17),Intron (7/17),Intron (8/17),Intron (9/17),Intron (10/17),Intron (11/17),Intron (12/17),Intron (13/17),Intron (14/17),Intron (15/17),Intron (16/17),Intron (17/17),Exon (18/18),Intron (1/18),Exon (3/19),Intron (3/18),Exon (5/19),Intron (5/18),Intron (6/18),Intron (7/18),Intron (8/18),Intron (9/18),Intron (10/18),Intron (11/18),Intron (12/18),Intron (13/18),Intron (14/18),Intron (15/18),Intron (16/18),Intron (17/18),Exon (19/19),Exon (1/9),Intron (2/8),Intron (3/8),Intron (4/8),Exon (6/9),Intron (6/8),Intron (7/8),Exon (8/9),Intron (8/8),Exon (9/9),Exon (1/10),Intron (2/9),Intron (3/9),Intron (5/9),Exon (7/10),Intron (7/9),Intron (8/9),Exon (9/10),Intron (9/9),Exon (10/10),Intron (1/2)
 
 krumm_15_ASD_discovery_cases-case13063.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TMEM255B,GAS6,Exon (15/15),Intron (14/14),Exon (14/15),Intron (13/14),Exon (13/15),Intron (12/14),Exon (12/15),Intron (11/14),Exon (11/15),Intron (10/14)
 
 krumm_15_ASD_discovery_cases-case13106.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 TMEM255B,GAS6,Exon (15/15),Intron (14/14),Exon (14/15),Intron (13/14),Exon (13/15),Intron (12/14),Exon (12/15),Intron (11/14),Exon (11/15),Intron (10/14),Exon (10/15),Intron (9/14),Exon (9/15),Intron (8/14)
 
 krumm_15_ASD_discovery_cases-case13294.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 TMEM255B,GAS6,Exon (15/15),Intron (14/14),Exon (14/15),Intron (13/14),Exon (13/15),Intron (12/14),Exon (12/15),Intron (11/14),Exon (11/15),Intron (10/14),Exon (10/15),Intron (9/14),Exon (9/15),Intron (8/14)
 
 krumm_15_ASD_discovery_cases-case13796.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 CDC16,Intron (6/17),Exon (7/18),Intron (7/17),Exon (8/18),Intron (8/17),Exon (9/18),Intron (9/17),Exon (10/18),Intron (10/17),Exon (11/18),Intron (11/17),Exon (12/18),Intron (12/17),Exon (13/18),Intron (13/17),Exon (14/18),Intron (14/17),Exon (15/18),Intron (15/17),Exon (16/18),Intron (16/17),Exon (17/18),Intron (17/17),Intron (6/18),Exon (7/19),Intron (7/18),Exon (8/19),Intron (8/18),Exon (9/19),Intron (9/18),Exon (10/19),Intron (10/18),Exon (11/19),Intron (11/18),Exon (12/19),Intron (12/18),Exon (13/19),Intron (13/18),Exon (14/19),Intron (14/18),Exon (15/19),Intron (15/18),Exon (16/19),Intron (16/18),Exon (17/19),Intron (17/18)
 
 krumm_15_ASD_discovery_cases-case13987.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 COL4A2,RAB20,CARKD,Intron (4/47),Intron (6/47),Intron (7/47),Intron (8/47),Intron (10/47),Intron (11/47),Intron (12/47),Intron (13/47),Intron (14/47),Intron (15/47),Intron (16/47),Intron (17/47),Intron (18/47),Intron (19/47),Intron (20/47),Intron (21/47),Exon (22/48),Intron (22/47),Exon (24/48),Intron (24/47),Exon (25/48),Intron (26/47),Intron (27/47),Intron (28/47),Exon (29/48),Intron (29/47),Intron (30/47),Intron (31/47),Exon (32/48),Intron (32/47),Exon (33/48),Exon (34/48),Intron (34/47),Exon (36/48),Intron (36/47),Exon (37/48),Exon (38/48),Intron (38/47),Intron (39/47),Intron (40/47),Intron (41/47),Exon (42/48),Intron (44/47),Intron (45/47),Intron (46/47),Exon (47/48),Intron (47/47),Exon (48/48),Exon (2/2),Intron (1/1),Exon (1/2),Intron (1/6),Intron (1/9),Intron (2/9)
 
 yin_16_ASD_discovery_cases-case456
 
 
 Unknown
 Unknown
 Unknown
 ING1
 
 yin_16_ASD_discovery_cases-case457
 
 
 Unknown
 Unknown
 Unknown
 CDC16,UPF3A,CHAMP1
 
 yin_16_ASD_discovery_cases-case458
 
 
 Unknown
 Unknown
 Unknown
 UPF3A,CHAMP1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C27219
 
 
 
 
 
  IRS2
 
nord_11_ASD_discovery_controls-04C27504
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28078
 
 
 
 
 
  CDC16
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Both parents
  Simplex (quad)
  NA
  GAS6 intronic
 
sanders_11_ASD_discovery_controls-11041.s1
 
 
  Both parents
  Simplex (quad)
  NA
  GAS6 intronic
 
sanders_11_ASD_discovery_controls-11085.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11190.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CARKD, CARS2, RAB20
 
sanders_11_ASD_discovery_controls-11256.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11285.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11488.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GAS6 intronic
 
sanders_11_ASD_discovery_controls-11834.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12015.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12048.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12426.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12623.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C13orf35 intronic
 
sanders_11_ASD_discovery_controls-12894.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12933.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13001.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
levy_11_ASD_discovery_controls-11190.s1
 
 
  Maternal
  Simplex
  NA
  CARKD,CARS2,RAB20
 
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control15
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: UPF3A
 
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control16
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: UPF3A
 
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control17
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: UPF3A
 
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control18
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: UPF3A
 
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control19
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: UPF3A
 
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control20
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: UPF3A
 
krumm_13_ASD_discovery_controls-control11190.s1
 
 
  Maternal
  Simplex
 
  RAB20, CARS2, CARKD
 
krumm_13_ASD_discovery_controls-control11196.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  UPF3A, CDC16, ZNF828
 
krumm_13_ASD_discovery_controls-control12829.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  DCUN1D2, TMCO3
 
krumm_13_ASD_discovery_controls-control13063.s1
 
 
  Maternal
  Simplex
 
  GAS6, FAM70B
 
poultney_13_ASD_discovery_controls-control05C39645A
 
 
  Unknown
 
 
  TMEM255B,GAS6
 
poultney_13_ASD_discovery_controls-control05C41452A
 
 
  Unknown
 
 
  TMEM255B,GAS6
 
poultney_13_ASD_discovery_controls-control05C42565A
 
 
  Unknown
 
 
  TMEM255B,GAS6
 
engchuan_15_ASD_discovery_controls-controlHABC_902547_902547
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900977_900977
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900023_900023
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
 
 
  Unknown
 
 
  FAM70B
 
engchuan_15_ASD_discovery_controls-controlB806145_1007873615
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB640981_1007874885
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB394441_1007874856
 
 
  Unknown
 
 
  CDC16;UPF3A
 
engchuan_15_ASD_discovery_controls-controlB182878_1007875343
 
 
  Unknown
 
 
  F10;F7
 
krumm_15_ASD_discovery_controls-control11107.s1
  Illumina 1M
 
  De novo
 
 
  CDC16,UPF3A,Intron (9/17),Exon (10/18),Intron (10/17),Exon (11/18),Intron (11/17),Exon (12/18),Intron (12/17),Exon (13/18),Intron (13/17),Exon (14/18),Intron (14/17),Exon (15/18),Intron (15/17),Exon (16/18),Intron (16/17),Exon (17/18),Intron (17/17),Exon (18/18),Intron (9/18),Exon (10/19),Intron (10/18),Exon (11/19),Intron (11/18),Exon (12/19),Intron (12/18),Exon (13/19),Intron (13/18),Exon (14/19),Intron (14/18),Exon (15/19),Intron (15/18),Exon (16/19),Intron (16/18),Exon (17/19),Intron (17/18),Exon (18/19),Intron (18/18),Exon (19/19),Exon (1/9),Intron (1/8),Exon (2/9),Intron (2/8),Exon (3/9),Intron (3/8),Exon (1/10),Intron (1/9),Exon (2/10),Intron (2/9),Exon (3/10),Intron (3/9)
 
krumm_15_ASD_discovery_controls-control11190.s1
  Illumina 1M
 
  Maternal
 
 
  COL4A2,RAB20,CARKD,CARS2,Exon (2/2),Intron (1/1),Exon (1/2),Exon (1/7),Intron (1/6),Exon (2/7),Intron (2/6),Intron (4/6),Exon (5/7),Intron (5/6),Exon (6/7),Intron (6/6),Exon (7/7),Exon (1/10),Intron (1/9),Intron (2/9),Intron (3/9),Intron (4/9),Exon (5/10),Intron (5/9),Intron (7/9),Exon (8/10),Intron (8/9),Exon (9/10),Intron (9/9),Exon (10/10),Exon (15/15),Intron (14/14),Intron (13/14),Exon (13/15),Intron (12/14),Intron (11/14),Exon (11/15),Intron (10/14),Intron (9/14),Intron (8/14),Intron (7/14)
 
krumm_15_ASD_discovery_controls-control11196.s1
  Illumina 1M
 
  Maternal
 
 
  CDC16,UPF3A,CHAMP1,Intron (3/17),Intron (4/17),Exon (5/18),Intron (5/17),Exon (6/18),Intron (6/17),Exon (7/18),Intron (7/17),Exon (8/18),Intron (8/17),Intron (9/17),Intron (10/17),Exon (11/18),Intron (11/17),Exon (12/18),Intron (12/17),Exon (13/18),Intron (13/17),Exon (14/18),Intron (14/17),Intron (15/17),Exon (16/18),Intron (16/17),Intron (17/17),Exon (18/18),Intron (3/18),Intron (4/18),Exon (5/19),Intron (5/18),Exon (6/19),Intron (6/18),Exon (7/19),Intron (7/18),Exon (8/19),Intron (8/18),Intron (9/18),Intron (10/18),Exon (11/19),Intron (11/18),Exon (12/19),Intron (12/18),Exon (13/19),Intron (13/18),Exon (14/19),Intron (14/18),Intron (15/18),Exon (16/19),Intron (16/18),Intron (17/18),Exon (18/19),Intron (18/18),Exon (1/9),Intron (1/8),Exon (2/9),Intron (2/8),Exon (3/9),Intron (3/8),Exon (4/9),Intron (4/8),Intron (5/8),Intron (6/8),Exon (7/9),Intron (7/8),Exon (8/9),Intron (8/8),Exon (9/9),Exon (1/10),Intron (1/9),Exon (2/10),Intron (2/9),Exon (3/10),Intron (3/9),Exon (4/10),Exon (5/10),Intron (5/9),Intron (6/9),Intron (7/9),Exon (8/10),Intron (8/9),Exon (9/10),Intron (9/9),Exon (10/10),Exon (1/3),Intron (1/2),Exon (2/3),Intron (2/2),Exon (3/3)
 
krumm_15_ASD_discovery_controls-control12220.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GAS6,Intron (14/14),Exon (14/15),Intron (13/14),Exon (13/15),Intron (12/14),Exon (12/15),Intron (11/14),Exon (11/15),Intron (10/14),Exon (10/15)
 
krumm_15_ASD_discovery_controls-control12829.s1
  Illumina 1MDuo
 
  Maternal
 
 
  DCUN1D2,TMCO3,Intron (1/6),Exon (1/7),Exon (1/13),Intron (1/12),Exon (2/13),Intron (2/12),Exon (3/13),Intron (3/12),Exon (4/13),Intron (4/12),Exon (5/13),Intron (5/12),Exon (6/13),Intron (6/12),Exon (7/13),Intron (7/12)
 
krumm_15_ASD_discovery_controls-control13063.s1
  Illumina 1MDuo
 
  Maternal
 
 
  TMEM255B,GAS6,Exon (15/15),Intron (14/14),Exon (14/15),Intron (13/14),Exon (13/15),Intron (12/14),Exon (12/15),Intron (11/14),Exon (11/15),Intron (10/14)
 
krumm_15_ASD_discovery_controls-control14063.s1
  Omni2.5-4v1
 
  De novo
 
 
  MCF2L,Intron (4/29),Exon (5/30),Intron (5/29),Exon (6/30),Intron (6/29),Exon (7/30),Intron (7/29),Exon (8/30),Intron (8/29),Exon (9/30),Intron (9/29),Exon (10/30),Intron (10/29),Exon (11/30),Intron (11/29),Exon (12/30),Intron (12/29)
 
krumm_15_ASD_discovery_controls-control14065.s1
  Omni2.5-4v1
 
  Paternal
 
 
  CDC16,UPF3A,Intron (12/17),Exon (13/18),Intron (13/17),Exon (14/18),Intron (14/17),Exon (15/18),Intron (15/17),Exon (16/18),Intron (16/17),Exon (17/18),Intron (17/17),Exon (18/18),Intron (12/18),Exon (13/19),Intron (13/18),Exon (14/19),Intron (14/18),Exon (15/19),Intron (15/18),Exon (16/19),Intron (16/18),Exon (17/19),Intron (17/18),Exon (18/19),Intron (18/18),Exon (19/19)
 
krumm_15_ASD_discovery_controls-control14181.s1
  Omni2.5-4v1
 
  Maternal
 
 
  TMEM255B,GAS6,Exon (15/15),Intron (14/14),Exon (14/15),Intron (13/14),Exon (13/15),Intron (12/14),Exon (12/15),Intron (11/14),Exon (11/15),Intron (10/14),Exon (10/15),Intron (9/14),Exon (9/15),Intron (8/14)
 
krumm_15_ASD_discovery_controls-control14417.s1
  Omni2.5-4v1
 
  Paternal
 
 
  RASA3,Intron (22/23),Exon (22/24),Intron (21/23),Exon (21/24),Intron (20/23),Exon (20/24),Intron (19/23),Exon (19/24),Intron (18/23),Exon (18/24),Intron (17/23),Intron (16/23),Exon (16/24),Intron (15/23),Intron (14/23),Exon (14/24),Intron (13/23),Exon (13/24),Intron (12/23),Exon (12/24),Intron (11/23),Exon (11/24),Intron (10/23),Exon (10/24),Intron (9/23),Exon (9/24),Intron (8/23),Exon (8/24),Intron (7/23),Exon (7/24),Intron (6/23),Exon (6/24),Intron (5/23),Exon (5/24),Intron (4/23),Intron (3/23),Exon (3/24),Intron (2/23)
 

No Animal Model Data Available
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