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13q12.12CNV Type: Deletion-Duplication


Largest CNV size: 1190200 bp

Statistics Box:
Number of Reports: 21



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
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.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Identification of rare copy number variants in high burden schizophrenia families.
Deletion
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 szatmari_07_ASD_discovery_cases
 Autism Genome Project Consortium (AGP): ASD patients from 173 families with at least two affected individuals.
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 1190200
 0
 2
 2
 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
 
 
 87232
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 332266
 1
 0
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 80918
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 ± 1.5 (mean verbal IQ, 81.9 ± 1.7; mean non-verbal IQ, 88.4 ± 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 149988
 3
 10
 13
 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
 1586388
 4
 3
 7
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 70424
 0
 1
 1
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 1416887
 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
 
 
 1324741
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 1427000
 1
 0
 1
 dabell_13_ASD/DD/ID_discovery_cases
 Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1
 30065
 Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies
 N/A
 N/A
 1344122
 1
 0
 1
 tropeano_13_DD/ASD_discovery_cases
 Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
 10397
 Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
 N/A
 63.4% Male
 1323181
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 12869
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 126581
 0
 2
 2
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 ± 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 1400000
 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
 1416888
 1
 1
 2
 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
 1421323
 3
 7
 10
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 75786
 0
 1
 1
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 11809
 0
 1
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 ± 4.04 yrs.
 89.3% Male
 60820
 2
 0
 2
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 1400000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 152934
 2
 6
 8
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 63020
 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_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 103723
 0
 2
 2
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 1416887
 0
 0
 0
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1324741
 NA
 NA
 NA
 tropeano_13_DD/ASD_discovery_controls
 Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
 11277
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 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
 9588
 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)
 1118077
 0
 2
 2
 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
 809018
 1
 10
 11
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 12865
 0
 1
 1
 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
 0
 0
 0
 0
 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
 60820
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affy 10K v2 array
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 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)
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH (targeted, n=881; whole-genome, n=482) or whole-genome oligo-aCGH (n=98)
 
 
 FISH
 gai_11_ASD_replication_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
 
 
 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
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip or 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 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
 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
 dabell_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
 
 
 None
 tropeano_13_DD/ASD_discovery_cases
  70% Caucasian, 15% African, 15% other/mixed ancestry
 aCGH
  Agilent 60K
 
 Feature Extraction, DNA Analytics
 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
 
 None (not tested or failure to confirm by qPCR)
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M v.1 and v3. arrays
 
 
 qPCR, MLPA, and/or long-range PCR
 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)
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
 Affymetrix Genotyping Console v4.1
 None
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  None
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip or 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  tropeano_13_DD/ASD_discovery_controls
  77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
  Solid phase hybridization
  Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
 
 
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  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)
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  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
  szatmari_07_ASD_discovery_cases-NAAR041-F10-00C04574
 NA
 
 ASD
 NA
 NA
 22502100
 23692300
  1190200
 NCBI Build35
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR041-F9-00C04573
 NA
 
 ASD
 NA
 NA
 22502100
 23692300
  1190200
 NCBI Build35
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1045_3
 NA
 M
 ASD
 NA
 NA
 24115481
 24202712
  87232
 
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case21622
 NA
 NA
 ASD
 NA
 NA
 23056087
 23388353
  332266
 
 Deletion
 Yes
  gai_11_ASD_replication_cases-AU012003
 
 
 Autism
 
 
 24108959
 24189876
  80918
 
 Duplication
 No
  sanders_11_ASD_discovery_cases-11134.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 22325749
 22339271
  13522
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11233.p1
 6
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
 23829981
 23908174
  78193
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11233.p1
 6
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
 22247733
 22397721
  149988
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11270.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
 24101089
 24148060
  46971
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11526.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
 22381716
 22413553
  31837
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11665.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
 23878949
 23903446
  24497
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11694.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
 23878949
 23897595
  18646
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12170.p1
 7
 F
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
 22716156
 22717297
  1141
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 22300993
 22310923
  9930
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12643.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
 24185174
 24229033
  43859
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12723.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
 22443597
 22451518
  7921
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13060.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
 24096892
 24148060
  51168
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13153.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
 22306043
 22310923
  4880
 hg18
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003865
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22376635
 23963023
  1586388
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005207
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22452478
 23835582
  1383104
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004123
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22464962
 23788143
  1323181
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002732
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22464962
 22971588
  506626
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002401
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22644617
 23143348
  498731
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000916
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22990864
 23625845
  634981
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002409
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23835538
 24376384
  540846
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si163
 8
 M
 Autism
 ADOS score: 7. Vineland composite score: 63.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.
 24078785
 24149209
  70424
 UCSC Build36/hg18
 Duplication
 No
  griswold_12_ASD_discovery_cases-case18011
 NA
 NA
 ASD/autism
 NA
 NA
 22409581
 23826468
  1416887
 hg18
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case61119
 9.5 mos.
 F
 Developmental delay
 Motor delay. Behavioral problems: NA. Normal tone. Dysmorphic features: brachycephaly, midface hypoplasia, downturned mouth, low-set ears, long and tapered fingers, abnormal thumb. Congenital anomalies: scoliosis, unilateral renal agenesis. Growth parameters: weight <3rd %ile, height 3rd-10th %ile, OFC 25th-50th %ile. Family history: not specific (adopted).
 NA
 22442669
 23767410
  1324741
 hg18
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-14266.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
 22430000
 23860000
  1427000
 hg18
 Deletion
 No
  dabell_13_ASD/DD/ID_discovery_cases-patient25
 9 yrs.
 F
 Multiple disabilities
 Indication for study: multiple disabilities.
 
 22464761
 23808883
  1344122
 hg18
 Deletion
 No
  tropeano_13_DD/ASD_discovery_cases-case42
 10 mos.
 M
 Birth defects
 Raised blood pressure during pregnancy, scalded-skin syndrome. Affected father.
 
 23566962
 24890143
  1323181
 hg19
 Deletion
 No
  poultney_13_ASD_discovery_cases-case04HI3375A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1334303; NDAR ID N/A)
 
 25272794
 25285662
  12869
 hg19
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
 N/A
 M
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, unsteady gait, fine motor delay, gross motor delay, visual motor delay, deficits in expressive and receptive language skills, deficits in motor oral skills, dysarthria. Ocular and auditory problems: strabismus. Gastrointestinal problems: problems with swallowing, reflux, constipation. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
 Developmental delay: yes. Intellectual disability: yes.
 22255136
 22381716
  126581
 hg18
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
 N/A
 M
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, unsteady gait, fine motor delay, gross motor delay, visual motor delay, deficits in expressive and receptive language skills, deficits in motor oral skills, dysarthria. Ocular and auditory problems: strabismus. Gastrointestinal problems: problems with swallowing, reflux, constipation. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
 Developmental delay: yes. Intellectual disability: yes.
 23829981
 23918863
  88883
 hg18
 Duplication
 No
  roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase14
 9 yrs.
 M
 Learning disability (developmental delay/intellectual disability)
 Microcephaly, cataract, dysmorphism
 
 22385973
 23818065
  1400000
 UCSC hg18
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case4374_1
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 22409581
 23826468
  1416888
 hg18
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case6233_4
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 22445855
 23861016
  1415162
 hg18
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case1045_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24115481
 24202712
  87231
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14164_2680
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24078151
 24220725
  142574
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1976_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22320522
 22381716
  61194
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20188_1727001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24167407
 24229033
  61626
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21012_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22404648
 23825971
  1421323
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3438_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24098597
 24148060
  49463
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4022_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23199943
 23405682
  205739
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4374_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22409581
 23826468
  1416887
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5336_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22247733
 22397721
  149988
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5336_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23829981
 23908174
  78193
 hg18
 Duplication
 No
  krumm_15_ASD_discovery_cases-case13844.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 23777833
 23853619
  75786
 hg19
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1966
 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.
 
 23345328
 23357136
  11809
 N/A
 Duplication
 No
  yin_16_ASD_discovery_cases-case445
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 25072527
 25133346
  60820
 GRCh37/hg19
 Deletion
 No
  yin_16_ASD_discovery_cases-case446
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 25072527
 25133346
  60820
 GRCh37/hg19
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU0965301
 N/A
 M
 ASD
 
 
 23529000
 24957000
  1400000
 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
  sanders_11_ASD_discovery_controls-11154.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  24170264
  24229033
  58769
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11233.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  23829981
  23903446
  73465
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11233.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  22251714
  22397721
  146007
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12153.s1
  16
  F
  Control (matched sibling)
  NA
  NA
  22325749
  22335587
  9838
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12170.s1
  5
  F
  Control (matched sibling)
  NA
  NA
  22716156
  22717297
  1141
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12613.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  23829981
  23897595
  67614
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12613.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  22251714
  22404648
  152934
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12723.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  22443597
  22451518
  7921
  hg18
  Deletion
  No
  levy_11_ASD_discovery_controls-11154.s1
  NA
  F
  Control
  NA
  NA
  24168272
  24231291
  63020
  hg18
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_210
  NA
  NA
  Control
  NA
  NA
  22242080
  22345803
  103723
  UCSC Build36/hg18
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_229
  NA
  NA
  Control
  NA
  NA
  24172080
  24224289
  52209
  UCSC Build36/hg18
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11154.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11154. SRS score of 45.
 
  25276072
  25285660
  9588
  hg19
  Duplication
  No (not tested)
  poultney_13_ASD_discovery_controls-control04C29259A
  N/A
  F
  Control
  NIMH Control (NIMH ID 86407)
 
  25272794
  25285662
  12869
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C45724
  N/A
  F
  Control
  NIMH Control (NIMH ID 98250)
 
  23777832
  24895908
  1118077
  hg19
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24172676
  24229027
  56351
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24172676
  24229027
  56351
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22247733
  22397721
  149988
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23829981
  23908174
  78193
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24170264
  24234128
  63864
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB829544_0057060999
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24098597
  24148060
  49463
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB594795_1007871727
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22536210
  23345228
  809018
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB416446_0067942614
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22251714
  22394997
  143283
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB416446_0067942614
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23826468
  23908174
  81706
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB395936_1007853800
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23483843
  23581721
  97878
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB106347_1007873601
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24183361
  24229033
  45672
  hg18
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11154.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  25272795
  25285660
  12865
  hg19
  Duplication
  Yes

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 szatmari_07_ASD_discovery_cases-NAAR041-F10-00C04574
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 SGCG,SACS,LINC00327,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,MIR2276
 
 szatmari_07_ASD_discovery_cases-NAAR041-F9-00C04573
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 SGCG,SACS,LINC00327,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,MIR2276
 
 pinto_10_ASD_discovery_cases-case1045_3
 Illumina550;Affy5
 
 maternal
 NA
 NA
 ATP12A
 
 rosenfeld_10_ASD_discovery_cases-case21622
 FISH
 
 Maternal
 Unknown
 Unknown
 TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B
 
 gai_11_ASD_replication_cases-AU012003
 
 
 Inherited
 
 
 ATP12A
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PARP4
 
 sanders_11_ASD_discovery_cases-11233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11270.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11526.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11665.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PARP4
 
 sanders_11_ASD_discovery_cases-11694.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 PARP4
 
 sanders_11_ASD_discovery_cases-12170.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SGCG intronic
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12643.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13060.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-13153.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003865
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9,PARP4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005207
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004123
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002732
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 SGCG,SACS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002401
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 SGCG,SACS,TNFRSF19
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000916
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002409
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PARP4,ATP12A,RNF17,CENPJ
 
 girirajan_11_ASD_discovery_cases-Si163
 
 
 Unknown
 Simplex
 
 0 genes
 
 griswold_12_ASD_discovery_cases-case18011
 qPCR
 
 Paternal
 Simplex
 Segregated
 SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case61119
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13
 
 girirajan_13a_ASD_discovery_cases-14266.p1
 
 
 Unknown
 Simplex
 Unknown
 SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9
 
 dabell_13_ASD/DD/ID_discovery_cases-patient25
 
 
 Paternal
 Unknown
 Unknown
 SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9
 
 tropeano_13_DD/ASD_discovery_cases-case42
 
 Paternal
 Maternal
 
 
 SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9
 
 poultney_13_ASD_discovery_cases-case04HI3375A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ATP12A
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 BC048997
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 PARP4
 
 roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase14
 BACs aCGH or FISH
 
 Paternal
 Unknown
 Unknown
 SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9
 
 pinto_14_ASD_discovery_cases2-case4374_1
 qPCR (Griswold et al. 2011, PMID: 21360829)
 
 Paternal
 Simplex
 (not tested)
 9 genes, including MIPEP, SACS, SGCG, SPATA13 and TNFRSF19
 
 pinto_14_ASD_discovery_cases2-case6233_4
 qPCR
 
 Maternal
 Simplex
 Segregated (no CNV in unaffected sib)
 9 genes, including MIPEP, SACS, SGCG, SPATA13 and TNFRSF19
 
 engchuan_15_ASD_discovery_cases-case1045_3
 
 
 Unknown
 
 
 ATP12A
 
 engchuan_15_ASD_discovery_cases-case14164_2680
 
 
 Unknown
 
 
 ATP12A
 
 engchuan_15_ASD_discovery_cases-case1976_302
 
 
 Unknown
 
 
 BASP1P1
 
 engchuan_15_ASD_discovery_cases-case20188_1727001
 
 
 Unknown
 
 
 ATP12A
 
 engchuan_15_ASD_discovery_cases-case21012_1
 
 
 Unknown
 
 
 C1QTNF9;C1QTNF9B;MIPEP;MIR2276;PCOTH;SACS;SGCG;SPATA13;TNFRSF19
 
 engchuan_15_ASD_discovery_cases-case3438_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4022_1
 
 
 Unknown
 
 
 C1QTNF9B;MIPEP;PCOTH
 
 engchuan_15_ASD_discovery_cases-case4374_1
 
 
 Unknown
 
 
 C1QTNF9;C1QTNF9B;MIPEP;MIR2276;PCOTH;SACS;SGCG;SPATA13;TNFRSF19
 
 engchuan_15_ASD_discovery_cases-case5336_3
 
 
 Unknown
 
 
 BASP1P1
 
 engchuan_15_ASD_discovery_cases-case5336_3
 
 
 Unknown
 
 
 PARP4
 
 krumm_15_ASD_discovery_cases-case13844.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SGCG,Intron (2/7),Exon (3/8),Intron (3/7),Exon (4/8),Intron (4/7)
 
 kanduri_15_ASD_discovery_cases-case1966
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, LINC00540(dist=494669),BASP1P1(dist=114033)
 
 yin_16_ASD_discovery_cases-case445
 
 
 Unknown
 Unknown
 Unknown
 PARP4
 
 yin_16_ASD_discovery_cases-case446
 
 
 Unknown
 Unknown
 Unknown
 PARP4
 
 leppa_16_ASD_discovery_cases-AU0965301
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected siblings)
 ANKRD20A19P, C1QTNF9, C1QTNF9B, LINC00327, MIPEP, MIR2276, SACS, SGCG, SPATA13, TNFRSF19
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11154.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ATP12A
 
sanders_11_ASD_discovery_controls-11233.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PARP4
 
sanders_11_ASD_discovery_controls-11233.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12153.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12170.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SGCG intronic
 
sanders_11_ASD_discovery_controls-12613.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PARP4
 
sanders_11_ASD_discovery_controls-12613.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12723.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
levy_11_ASD_discovery_controls-11154.s1
 
 
  Paternal
  Simplex
  NA
  ATP12A
 
girirajan_11_ASD_discovery_controls-NIMH_210
 
 
  Unknown
 
 
  0 genes
 
girirajan_11_ASD_discovery_controls-NIMH_229
 
 
  Unknown
 
 
  ATP12A
 
krumm_13_ASD_discovery_controls-control11154.s1
 
 
  Paternal
  Simplex
 
  ATP12A
 
poultney_13_ASD_discovery_controls-control04C29259A
 
 
  Unknown
 
 
  ATP12A
 
poultney_13_ASD_discovery_controls-control05C45724
 
 
  Unknown
 
 
  SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9
 
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
 
 
  Unknown
 
 
  ATP12A
 
engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
 
 
  Unknown
 
 
  ATP12A
 
engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
 
 
  Unknown
 
 
  BASP1P1
 
engchuan_15_ASD_discovery_controls-controlHABC_900939_900939
 
 
  Unknown
 
 
  PARP4
 
engchuan_15_ASD_discovery_controls-controlHABC_900060_900060
 
 
  Unknown
 
 
  ATP12A
 
engchuan_15_ASD_discovery_controls-controlB829544_0057060999
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB594795_1007871727
 
 
  Unknown
 
 
  MIPEP;SACS;SGCG;TNFRSF19
 
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
 
 
  Unknown
 
 
  BASP1P1
 
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
 
 
  Unknown
 
 
  PARP4
 
engchuan_15_ASD_discovery_controls-controlB395936_1007853800
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB106347_1007873601
 
 
  Unknown
 
 
  ATP12A
 
krumm_15_ASD_discovery_controls-control11154.s1
  Illumina 1M
 
  Paternal
 
 
  ATP12A,Intron (12/22),Exon (13/23),Intron (13/22),Exon (14/23),Intron (14/22),Exon (15/23),Intron (15/22),Exon (16/23),Intron (16/22),Exon (17/23),Intron (17/22),Exon (18/23),Intron (18/22),Exon (19/23),Intron (19/22),Exon (20/23),Intron (20/22),Exon (21/23),Intron (21/22),Exon (22/23)
 

No Animal Model Data Available
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