4q35.2CNV Type: Deletion-Duplication


Largest CNV size: 1923434 bp

Statistics Box:
Number of Reports: 31



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion-Duplication
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Contribution of SHANK3 mutations to autism spectrum disorder.
Duplication
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Deletion
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
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.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3\' untranslated region in the MECP2 duplication phenotype.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
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
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
Duplication
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 261000
 1
 1
 2
 bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
 Unrelated Tourette syndrome (TS) patients recruited through the Herlev Tourette Clinic (Denmark)
 188
 Tourette syndrome (TS) with additional comorbidities, including ADHD, OCD, and ASD
 N/A
 81.91% Male
 1700000
 0
 1
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 21853
 0
 1
 1
 chong_14_DD/ID/ASD/MCA_discovery_cases
 Patients referred to clinical genetics service and recruited for CMA application study
 105
 Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
 N/A
 N/A
 3600000
 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
 1164636
 4
 23
 27
 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
 
 
 478655
 0
 1
 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
 
 
 1137603
 0
 1
 1
 gilling_08_ASD_discovery_cases
 38-year-old Danish female with childhood autism & high-grade myopia
 1
 ASD. Diagnosis of childhood autism (as defined in ICD-10) based on ADOS (module 4) & ADI-R.
 38 yrs.
 Female
 1200000
 1
 0
 1
 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.
 
 
 540554
 0
 1
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 1102000
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 441820
 0
 2
 2
 hanchard_12_ASD_discovery_cases
 Affected female consultand from a pedigree with ASDs, epilepsy, and cognitive processing problems
 1
 Formal autism evaluation using Gilliam Autism Rating scales (GARS) consistent with diagnosis of PDD-NOS. Additional diagnoses of ADHD and epilepsy.
 6 yrs.
 Female
 194000
 0
 1
 1
 handrigan_13_ASD/DD/ID_discovery_cases
 Patients with 16q24.2 deletions. Patient 1 recruited at the University of Alberta, Edmonton for indication of congenital renal malformation; all other patients screened at three different clinical genetic diagnostic centers (patients 2-3 identified at the Hospital for Sick Children, Toronto; patients 4-6 and 14-35 identified at Signature Genomic Laboratories; patients 7-13 identified at the Mayo
 35
 22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
 Range, 0 mos.-20 yrs.
 48.57% Male
 503701
 1
 0
 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
 2694855
 9
 8
 17
 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
 283757
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 283757
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 280265
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 1923434
 0
 5
 5
 moessner_07_ASD_discovery_cases
 Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
 400
 ASD
 
 
 286000
 0
 2
 2
 moreira_14_ASD/EP_discovery_cases
 ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
 531
 ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
 N/A
 N/A
 203000
 0
 1
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the ??Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the ??Fondation Lejeune?? over a period of 3 years (2009??2011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 477000
 0
 1
 1
 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
 460510
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 1190000
 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)
 144569
 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
 1942051
 3
 3
 6
 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
 1200000
 1
 0
 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
 
 
 1051491
 0
 4
 4
 rosenfeld_10_non-ASD_discovery_cases
 
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 0
 4
 4
 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
 655691
 17
 10
 27
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 1120000
 1
 0
 1
 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
 
 
 1283000
 14
 6
 20
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 68550
 1
 0
 1
 wang_10_ASD_discovery_cases
 ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
 103
 ASD (according to DSM-IV criteria)
 Mean, 21.5 ± 10.3
 78.6% Male
 1559000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 1615876
 8
 23
 31
 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.
 
 
 1316511
 2
 0
 2
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 handrigan_13_ASD/DD/ID_discovery_controls
 Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
 11019
 Control
 NA
 NA
 NA
 NA
 NA
 NA
 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
 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
 50312
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 75632
 0
 3
 3
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 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
 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
 N/A
 N/A
 N/A
 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.
 
 60030
 2
 1
 3
 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)
 144569
 0
 5
 5
 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)
 1942051
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 800896
 17
 10
 27
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 68550
 N/A
 N/A
 N/A
 wang_10_ASD_discovery_controls
 Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
 203
 Controls
 Mean, 32.5 ± 8.06
 71.9% Male
 1559000
 1
 1
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH or array SNP
  aCGH: BACs aCGH (Integrachip 0.8 Mb), Agilent 44K oligoarray, or Agilent 180K oligoarray; array SNP: Affymetrix 6.0 Chip
 
 
 FISH or qPCR
 bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
  Danish
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2.7M (n=82) and Affymetrix CytoScan HD (n=106)
 
 ChAS (Affymetrix)
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 chong_14_DD/ID/ASD/MCA_discovery_cases
  Chinese
 aCGH
  High-resolution 180K oligoarray
 
 
 aCGH (NimbleGen)
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gilling_08_ASD_discovery_cases
  Danish
 aCGH
  BACs aCGH (Whole-genome 32K BAC array)
 
 
 FISH
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 hanchard_12_ASD_discovery_cases
  Caucasian
 aCGH
  Custom Agilent 4X44K microarray
 
 
 None
 handrigan_13_ASD/DD/ID_discovery_cases
  NA
 Solid phase hybridization (n=1) or aCGH (n=34)
  Illumina Omni 2.5M-Quad BeadChip (n=1), SignatureChipOS V1.0 105K array or SignatureChipOS V2.0 or V3.0 135K array (n=24), BACs aCGH (n=1), Agilent 4x180K ISCA V2 array (n=2), Agilent ISCA 44K or 180K
 
 
 None
 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
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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
 moessner_07_ASD_discovery_cases
 
 Array SNP
  Affy 500K
 
 
 
 moreira_14_ASD/EP_discovery_cases
  Ethnically-mixed Brazilian
 Array SNP
  Various Affymetrix platforms
 
 
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12 (n=147), 660W-Quad (n=27), and 370CNV-Quad (n=20)
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 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
 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)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH (targeted, n=881; whole-genome, n=482) or whole-genome oligo-aCGH (n=98)
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH (targeted, n=14586; whole-genome, n=4940) or whole-genome oligo-aCGH (n=1693)
 
 
 FISH
 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
 
 
 shen_10_ASD_discovery_cases
 
 aCGH (n=589) or array SNP (n=108)
  Agilent 244A, Affy NspI + Affy SytI, or Affy 5.0
 BRLMM & CNAT4 (Affy 500K); Partek Genomic Suite (Affy 5.0)
 CGH Analytics or DNA Analytics software (aCGH)
 None
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affy 10K v2 array
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 walker_13_ASD_discovery_cases
  N/A
 Solid phase hybridization (n=993) or array SNP (n=498)
  Illumina 1M (n=993) or Affymetrix 6.0 (n=498)
 
 QuantiSNP and PennCNV (Illumina); Birdsuite, iPattern and Genotyping Console for Affymetrix
 None
 wang_10_ASD_discovery_cases
  Croatian
 Solid phase hybridization
  Illumina HumanHap550 BeadChip
 PennCNV
 BeadStudio
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  handrigan_13_ASD/DD/ID_discovery_controls
  NA
  NA
  NA
 
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  walker_13_ASD_discovery_controls
  N/A
  Solid phase hybridization (n=1287) or array SNP (n=2357)
  Illumina 1M (n=1287) or Affymetrix 6.0 (n=2357)
 
  QuantiSNP and PennCNV (Illumina); Birdsuite, iPattern and Genotyping Console for Affymetrix
  None
  wang_10_ASD_discovery_controls
  Croatian
  Solid phase hybridization
  Illumina HumanHap550 BeadChip
  PennCNV
  BeadStudio
  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
  battaglia_13_DD/ID/ASD_discovery_cases-case39
 7 yrs. 10 mos.
 M
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Mild DD/ID
 187568520
 187767160
  199000
 hg18
 Duplication
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case60
 12 yrs. 4 mos.
 M
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Moderate DD/ID
 189484696
 189745394
  261000
 hg18
 Deletion
 Yes
  bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient4
 N/A
 M
 Tourette syndrome and OCD
 Symptoms: TS, OCD. Family history: father with obsessive-compulsive behavior and stuttering; unaffected mother.
 N/A
 188104036
 189795272
  1700000
 hg19
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11030
 NA
 M
 ASD
 NA
 NA
 190862530
 190884383
  21853
 hg19
 Duplication
 No
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1055
 N/A
 F
 Developmental delay
 Mild developmental delay, blepharophimosis, dysmorphic features. Family history: none reported.
 Mild developmental delay
 187108903
 190722107
  3600000
 hg19
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case13082_963
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 188698152
 189493792
  795640
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13204_883
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 187776317
 188085069
  308752
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13204_883
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 188554375
 189071169
  516794
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13204_883
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 187598296
 187674309
  76013
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14221_3550
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190474971
 190554472
  79501
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14389_4980
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 187648291
 187836439
  188148
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14389_4980
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189653677
 189913844
  260167
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16033_1571008001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190555706
 191252241
  696535
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20052_1277001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189570654
 189625591
  54937
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20052_1277001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189466210
 189533026
  66816
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2290_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189380469
 189625591
  245122
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3053_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190066896
 190098547
  31651
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3072_8
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189540090
 190704726
  1164636
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3072_8
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190922297
 190993476
  71179
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3079_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190468410
 190548930
  80520
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3437_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190907533
 191024654
  117121
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3505_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189735058
 189853695
  118637
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3505_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189152978
 189365330
  212352
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3615_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189370201
 189837707
  467506
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3618_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190169090
 190631118
  462028
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3618_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 189552892
 189625591
  72699
 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)
 
 188698152
 189829924
  1131772
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4273_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190977323
 191184571
  207248
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4324_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 191008343
 191132380
  124037
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5351_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 188442833
 188671671
  228838
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5351_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 187493998
 187771369
  277371
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5532_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 190915666
 190953178
  37512
 hg18
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1067302
 
 
 Autism
 
 
 190631118
 191109772
  478655
 
 Duplication
 No
  gai_11_ASD_replication_cases-AU020604
 
 
 Autism
 
 
 188700105
 189837707
  1137603
 
 Duplication
 No
  gilling_08_ASD_discovery_cases-case1
 38 yrs.
 F
 ASD
 Diagnosis of childhood autism (as defined in ICD-10) based on ADOS (module 4) & ADI-R by age 34 yrs. ADOS test results: communication, 7 (autism cutoff 3); qualitative impairment of reciprocal social interaction, 7 (autism cutoff 6); total score, 14 (autism cut-off 10). ADI-R test results: qualitative impairment in reciprocal social interaction, 27 (autism cut-off 10); communication, 18 (autism cut-off 8); restricted & repetitive behavior, 9 (autism cut-off 3). Developmental milestones: sat at 9 mos., walked unaided at 17 mos., first words & sentences at 42 mos. Delayed psychomotor & language development. Behavioral difficulties. Previously diagnosed with childhood autism at 3 yrs. of age; attended school for autistic children until 18 yrs., then moved to an institution for autistic adults. Mild cerebral palsy. Hyperflexible joints. High-grade mypoia (12 dioptres, right eye; -11 dioptres, left eye). Hypersensitivity to sounds. No dysmorphic features. Family history: mother & father healthy; younger sister phenotypically normal
 Wechsler Adult Intelligence Scale-Revised (WAIS-R) IQ scores: verbal IQ, 78; performance IQ, 105; full IQ, 88.
 187648000
 188915000
  1200000
 NCBI35/hg17
 Deletion
 Yes
  girirajan_11_ASD_discovery_cases-Si199
 9
 M
 Autism
 ADOS score: 6. Vineland composite score: NA.
 No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 101; Non-verbal IQ, 109.
 190484020
 191024574
  540554
 UCSC Build36/hg18
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU020604
 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
 188710000
 189810000
  1102000
 hg18
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-31008110295
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 190753892
 191195712
  441820
 Build36/hg18
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-63104102826
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
 N/A
 188702916
 189106112
  403196
 Build36/hg18
 Duplication
 No
  hanchard_12_ASD_discovery_cases-case1
 6 yrs.
 F
 PDD-NOS
 Formal autism evaluation using Gilliam Autism Rating scales (GARS) consistent with diagnosis of PDD-NOS. Developmental milestones: presented at 3 years 10 months after mild delays in fine and gross motor development, with loss of speech and significant behavioral problems including ADHD and aggression. Also had hyperacusis, sensitivity to textures, and poor eye contact. Language and communication evaluation: limited vocabulary with difficulties in speech articulation at 6 years of age. Epilepsy/seizures: developed focal onset seizures and was diagnosed with epilepsy; at 6 years, seizures were medically refractory. Dysmorphic features: smooth philtrum, double ear crus, over-folded helix, bilateral 5th finger clinodactyly, talus rotation. Growth parameters: proportionally large for age (height, 75th-90th %ile; weight, 97th %ile; head circumference, 98th %ile). Family history: father (carries Xq28 duplication) with speech and cognition problems in childhood and epilepsy; mother had problems with cognitive processing and executive functioning; brother with sleep disturbances, ADHD, and ASD; maternal half-brother with sleep problems and ADHD (mother, brother, and maternal half-brother all carry 4q35.2 duplication).
 Problems with cognitive processing
 NA
 NA
  115000
 NCBI Build36
 Duplication
 No
  handrigan_13_ASD/DD/ID_discovery_cases-patient8
 9 yrs.
 F
 ASD
 Neurodevelopmental abnormalities: PDD (pervasive developmental delay), speech delay, social awkardness. Urological abnormalities: none reported. Other features: macrocephaly, small ears, high-arched palate, hypertelorism, maxillary hypoplasia. Growth parameters: overgrowth for both weight and height.
 
 189203417
 189707118
  503701
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000070
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 187376506
 188642216
  1265710
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000633
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 190286209
 191133668
  847459
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 189989882
 190316291
  326409
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001015
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 190343851
 190412809
  68958
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001757
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 187708686
 188442437
  733751
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002430
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 189482760
 191043228
  1560468
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002560
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 189284725
 189782479
  497754
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003792
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 189047794
 191133809
  2086015
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003809
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 189323160
 191200788
  1877628
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004004
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 190269366
 191133668
  864302
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004192
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 188748034
 189989941
  1241907
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004237
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 190205043
 191133809
  928766
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004809
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 190269366
 191133668
  864302
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004907
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 188505933
 191200788
  2694855
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005138
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 188748034
 189273288
  525254
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005273
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 189273229
 189782479
  509250
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005436
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 188094827
 188810650
  715823
 NCBI36
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case12100.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12100. SRS score of 90.
 Full-scale IQ (FSIQ) score of 71.
 187192762
 187476519
  283757
 hg19
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case12100.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 187192762
 187476519
  283757
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14374.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 189012526
 189068526
  56000
 hg19
 Duplication
 Yes
  levy_11_ASD_discovery_cases-12100.p1
 NA
 M
 ASD
 NA
 NA
 187429697
 187709961
  280265
 hg18
 Duplication
 No
  marshall_08_ASD_discovery_cases-MM0019-003
 NA
 M
 ASD
 NA
 NA
 190172765
 191306043
  1133279
 NCBI Build35
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-MM0109-003
 NA
 F
 ASD
 nonverbal, severe repetitive behavior, mild dysmorphism
 IQ/LOF 27
 189538747
 189825000
  286254
 NCBI Build35
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0074-003
 NA
 M
 ASD
 NA
 NA
 188230567
 190154000
  1923434
 NCBI Build35
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0083-003
 NA
 M
 ASD
 severe speech unintelligibility, mild repetitive behavior, severe dysmorphism
 IQ/LOF 56
 188232000
 188253314
  21315
 NCBI Build35
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0112-003
 NA
 M
 ASD
 NA
 NA
 189580553
 190228000
  647447
 NCBI Build35
 Duplication
 Yes
  moessner_07_ASD_discovery_cases-case1
 NA
 F
 ASD
 Nonverbal speech, poor social interaction, repetitive behaviors
 Global developmental delay
 190742803
 190967000
  224000
 NCBI Build 35
 Duplication
 No
  moessner_07_ASD_discovery_cases-case1
 NA
 F
 ASD
 Nonverbal speech, poor social interaction, repetitive behaviors
 Global developmental delay
 189538747
 189825000
  286000
 NCBI Build 35
 Duplication
 No
  moreira_14_ASD/EP_discovery_cases-case4
 21 yrs.
 F
 ASD
 Language and communication evaluation: few words. Motor and musculoskeletal evaluation: restriction of extension, elbows and knees. Epilepsy/seizures: none. Other features: hyperlordosis. Dysmorphic features: epicanthus, short philtrum, thick lips. Growth parameters: height of 166 cm (50th-75th %ile), weight of 52 kg (10th-25th %ile), and head circumference of 54 cm (25th-50th %ile).
 
 186934286
 187137146
  203000
 hg19
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam762Proband9995
 N/A
 F
 ASD
 Additional clinical profile info N/A
 ID
 189519459
 189996691
  477000
 hg18
 Duplication
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2436
 N/A
 F
 Developmental delay and epilepsy
 Database: Signature. Indication for study: Developmental Delay, Seizure Disorder, arr cgh 4q35(RP11-347P3,RP11-706F1,RP11-45F23)x1
 
 189970919
 190431429
  460510
 hg19
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case3072_008
 NA
 M
 Autism
 Language delay, no epilepsy, height P97, head circumference P98, mild eczema, no other associated medical or psychiatric problems
 Normal IQ
 189533070
 190718765
  1190000
 
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case99HI0890A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU020604; NDAR ID NDAR_INVME872TUQ)
 
 188923960
 189068528
  144569
 hg19
 Duplication
 No
  prasad_12_ASD_discovery_cases-case170300
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 189228998
 189255442
  26445
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47602
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 190982221
 191133722
  151502
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case59640L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 189499656
 190088376
  588721
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case59997L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 190907560
 190921241
  13682
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60910L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 188088890
 190030940
  1942051
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case93185
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 190262120
 191041681
  779562
 
 Deletion
 No
  roberts_13_ASD/DD/ID_discovery_cases-ASDcase3
 12 yrs.
 M
 ASD
 ADHD, OCD, easy bruising, irregular sleep disturbances
 
 187471061
 188661633
  1200000
 UCSC hg18
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case13402
 NA
 NA
 ASD
 NA
 NA
 188225707
 188492275
  266568
 
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case17377
 NA
 NA
 ASD
 NA
 NA
 190207913
 190668423
  460510
 
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case21007
 NA
 NA
 ASD
 NA
 NA
 188225707
 189277198
  1051491
 
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case21622
 NA
 NA
 ASD
 NA
 NA
 189700508
 189960829
  260321
 
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11041.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
 190468410
 190554472
  86062
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 188438344
 188663123
  224779
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 187493998
 187771369
  277371
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11073.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 188389631
 188396635
  7004
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11156.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
 190235898
 190391874
  155976
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11167.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
 191109772
 191182472
  72700
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11241.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
 190871883
 191164126
  292243
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11241.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
 189164816
 189172656
  7840
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11263.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
 190131947
 190148221
  16274
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11322.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 189581756
 189588262
  6506
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11398.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
 189164816
 189172611
  7795
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11421.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
 189425133
 189858133
  433000
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11446.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
 189164816
 189173623
  8807
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11540.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
 188080720
 188085069
  4349
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11843.p1
 14
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
 189164816
 189173623
  8807
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11928.p1
 12
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
 189493792
 189503048
  9256
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11995.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
 190922297
 190953178
  30881
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12030.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
 190871883
 191030841
  158958
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12030.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 101
 191059418
 191140682
  81264
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12051.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
 189164816
 189173623
  8807
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12100.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
 187429475
 188085166
  655691
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 191019867
 191252241
  232374
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 189493792
 189503048
  9256
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12361.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
 189164816
 189173623
  8807
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12363.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
 189493792
 189503048
  9256
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12865.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
 189164816
 189173623
  8807
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 189493792
 189503048
  9256
 hg18
 Deletion
 No
  shen_10_ASD_discovery_cases-ASD-09-039
 NA
 M
 ASD
 NA
 NA
 185535833
 186654005
  1120000
 UCSC Genome Browser hg18
 Deletion
 No
  szatmari_07_ASD_discovery_cases-NAAR023-D9-3046.001
 NA
 
 ASD
 NA
 NA
 189670000
 190118000
  448000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR023-F9-3046.003
 NA
 
 ASD
 NA
 NA
 189670000
 190118000
  448000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR024-A12-3072.008
 NA
 
 ASD
 NA
 NA
 189808000
 191091000
  1283000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR024-B12-3072.009
 NA
 
 ASD
 NA
 NA
 189808000
 191091000
  1283000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR024-G11-3072.006
 NA
 
 ASD
 NA
 NA
 189808000
 191091000
  1283000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR027-C6-3120.003
 NA
 
 ASD
 NA
 NA
 189303000
 189310000
  7000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR027-D6-3120.004
 NA
 
 ASD
 NA
 NA
 189303000
 189310000
  7000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR027-E6-3120.005
 NA
 
 ASD
 NA
 NA
 189303000
 189310000
  7000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR041-G10-01C05471
 NA
 
 ASD
 NA
 NA
 190013000
 191091000
  1078000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR041-G7-01C05468
 NA
 
 ASD
 NA
 NA
 190013000
 191091000
  1078000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR062-D4-HI0888
 NA
 
 ASD
 NA
 NA
 189670000
 189905000
  235000
 NCBI Build35
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR062-D5-HI0889
 NA
 
 ASD
 NA
 NA
 188796000
 189905000
  1109000
 NCBI Build35
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR062-D6-HI0890
 NA
 
 ASD
 NA
 NA
 188901000
 189905000
  1004000
 NCBI Build35
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR062-D7-HI0891
 NA
 
 ASD
 NA
 NA
 188901000
 189310000
  409000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR070-H5-HI3148
 NA
 
 ASD
 NA
 NA
 189303000
 189310000
  7000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR071-A5-HI3159
 NA
 
 ASD
 NA
 NA
 189303000
 189310000
  7000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR071-A7-HI3161
 NA
 
 ASD
 NA
 NA
 189303000
 189310000
  7000
 NCBI Build35
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR073-E12-04C35554
 NA
 
 ASD
 NA
 NA
 189670000
 190118000
  448000
 NCBI Build35
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR073-F2-04C35556
 NA
 
 ASD
 NA
 NA
 189670000
 190200000
  530000
 NCBI Build35
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR073-H10-04C35587
 NA
 
 ASD
 NA
 NA
 189670000
 190118000
  448000
 NCBI Build35
 Duplication
 Yes
  walker_13_ASD_discovery_cases-case1-0455-003
 N/A
 M
 ASD
 N/A
 N/A
 190174936
 190243485
  68550
 hg18
 Deletion
 No
  wang_10_ASD_discovery_cases-AC0025
 22
 M
 ASD
 NA
 NA
 189924391
 191164126
  1240000
 NCBI Build 36.3
 Deletion
 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
  engchuan_15_ASD_discovery_controls-control110036022796_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  188641768
  190257644
  1615876
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036023588_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190161177
  190515979
  354802
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB277797_1007853793
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189483400
  189673835
  190435
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB277797_1007853793
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190466776
  190789579
  322803
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB456613_1007854343
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190594455
  190704117
  109662
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB488908_1007854765
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189346279
  189747463
  401184
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB488908_1007854765
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189943798
  190388377
  444579
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB534543_1007874558
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190056744
  190195104
  138360
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB537495_1007853968
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189108796
  189338767
  229971
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB621960_1007854303
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190161177
  190515979
  354802
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB621960_1007854303
  N/A
  N/A
  Control
  No previous psychiatric history
 
  188511196
  189224502
  713306
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB787602_1007874634
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189185015
  189299208
  114193
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB894345_1007872589
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189627943
  190029985
  402042
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB944304_1007853858
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189558024
  189700591
  142567
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB966200_1007843929
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190183902
  190626484
  442582
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB966200_1007843929
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189558024
  189625591
  67567
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189346279
  189747463
  401184
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189943798
  190391874
  448076
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
  N/A
  N/A
  Control
  No previous psychiatric history
 
  188526734
  188685273
  158539
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189288930
  189858133
  569203
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901025_901025
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190907533
  191164126
  256593
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901025_901025
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190265102
  190789579
  524477
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901058_901058
  N/A
  N/A
  Control
  No previous psychiatric history
 
  188157762
  188385399
  227637
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
  N/A
  N/A
  Control
  No previous psychiatric history
 
  191043840
  191182472
  138632
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
  N/A
  N/A
  Control
  No previous psychiatric history
 
  191006132
  191138111
  131979
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189979510
  190154509
  174999
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190468410
  190789579
  321169
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
  N/A
  N/A
  Control
  No previous psychiatric history
 
  190512373
  190717503
  205130
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
  N/A
  N/A
  Control
  No previous psychiatric history
 
  191043686
  191092773
  49087
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902889_902889
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189346279
  189747463
  401184
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902889_902889
  N/A
  N/A
  Control
  No previous psychiatric history
 
  189943798
  190391874
  448076
  hg18
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_117
  NA
  NA
  Control
  NA
  NA
  188702916
  189442350
  739434
  UCSC Build36/hg18
  Deletion
  No
  girirajan_11_ASD_discovery_controls-NIMH_169
  NA
  NA
  Control
  NA
  NA
  189879201
  191195712
  1316511
  UCSC Build36/hg18
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11429.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11429. SRS score N/A.
 
  189018214
  189068526
  50312
  hg19
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11429.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  189012526
  189068526
  56000
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11473.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  187454842
  187530474
  75632
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14374.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  189012526
  189068526
  56000
  hg19
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C28078
 
 
 
  Control
 
 
  187609952
  187669981
  60030
 
  Duplication
 
  nord_11_ASD_discovery_controls-04C28230
 
 
 
  Control
 
 
  189189888
  189203360
  13473
 
  Deletion
 
  nord_11_ASD_discovery_controls-04C28420
 
 
 
  Control
 
 
  189332950
  189346081
  13132
 
  Deletion
 
  poultney_13_ASD_discovery_controls-control04C28851A
  N/A
  M
  Control
  NIMH Control (NIMH ID 46341)
 
  190873315
  190881996
  8682
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C29546A
  N/A
  F
  Control
  NIMH Control (NIMH ID 82895)
 
  188923960
  189068528
  144569
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C37412B
  N/A
  M
  Control
  NIMH Control (NIMH ID 36050)
 
  189020187
  189026088
  5902
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C37423A
  N/A
  F
  Control
  NIMH Control (NIMH ID 25921)
 
  188923960
  189068528
  144569
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C38506A
  N/A
  F
  Control
  NIMH Control (NIMH ID 76095)
 
  187454841
  187531169
  76329
  hg19
  Duplication
  No
  sanders_11_ASD_discovery_controls-11041.s1
  15
  M
  Control (matched sibling)
  NA
  NA
  190468410
  190555820
  87410
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11071.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  188442833
  188663123
  220290
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11071.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  187493998
  187771369
  277371
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11073.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  188389631
  188396635
  7004
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11239.s1
  15
  M
  Control (matched sibling)
  NA
  NA
  188442833
  188464945
  22112
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11
  M
  Control (matched sibling)
  NA
  NA
  190871883
  191164126
  292243
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11
  M
  Control (matched sibling)
  NA
  NA
  190265102
  190746802
  481700
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11
  M
  Control (matched sibling)
  NA
  NA
  189164816
  189173623
  8807
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11421.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  189431655
  189853695
  422040
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11429.s1
  18
  M
  Control (matched sibling)
  NA
  NA
  189168331
  189395157
  226826
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11473.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  187566239
  187768016
  201777
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11599.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  189164816
  189172611
  7795
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11601.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  191000331
  191039071
  38740
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11654.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  189581756
  189584572
  2816
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11839.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  188613499
  188628240
  14741
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11843.s1
  16
  F
  Control (matched sibling)
  NA
  NA
  189164816
  189173623
  8807
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  188389631
  188397921
  8290
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12051.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  189164816
  189173623
  8807
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12281.s1
  18
  F
  Control (matched sibling)
  NA
  NA
  190903259
  191020022
  116763
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12281.s1
  18
  F
  Control (matched sibling)
  NA
  NA
  190034255
  190835151
  800896
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12418.s1
  11
  M
  Control (matched sibling)
  NA
  NA
  191059418
  191184571
  125153
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12532.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  188853414
  188860949
  7535
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12865.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  189164816
  189173623
  8807
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12894.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  189493792
  189503048
  9256
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13006.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  189164816
  189173623
  8807
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13063.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  188853414
  188860949
  7535
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13077.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  189493792
  189503048
  9256
  hg18
  Deletion
  No
  wang_10_ASD_discovery_controls-Aut141
  20
  M
  Control
  NA
  NA
  190385789
  190982886
  597000
  NCBI Build 36.3
  Duplication
  No
  wang_10_ASD_discovery_controls-Aut37
  27
  M
  Control
  NA
  NA
  188763338
  190322725
  1559000
  NCBI Build 36.3
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 battaglia_13_DD/ID/ASD_discovery_cases-case39
 FISH or qPCR
 Paternal
 Paternal
 Possible multi-generational
 Segregated
 MTNR1A,FAT1
 
 battaglia_13_DD/ID/ASD_discovery_cases-case60
 FISH or qPCR
 Paternal
 Paternal
 Possible multi-generational
 Segregated
 0 genes
 
 bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient4
 
 Possibly paternal
 Paternal
 Possibly multi-generational
 Possibly segregated
 ZFP42, TRIML1, TRIML2, LOC339975, LOC401164
 
 celestino-soper_11_ASD_discovery_cases-11030
 
 
 Unknown
 Simplex
 NA
 FRG1
 
 chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1055
 Nimblegen aCGH
 
 Unknown
 Simplex (negative family history)
 Unknown
 CYP4V2,KLKB1,F11,MTNR1A,FAT1,ZFP42,TRIML2,TRIML1
 
 engchuan_15_ASD_discovery_cases-case13082_963
 
 
 Unknown
 
 
 TRIML1;TRIML2;ZFP42
 
 engchuan_15_ASD_discovery_cases-case13204_883
 
 
 Unknown
 
 
 FAT1
 
 engchuan_15_ASD_discovery_cases-case13204_883
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case13204_883
 
 
 Unknown
 
 
 LOC285441
 
 engchuan_15_ASD_discovery_cases-case14221_3550
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14389_4980
 
 
 Unknown
 
 
 FAT1;LOC285441;MTNR1A
 
 engchuan_15_ASD_discovery_cases-case14389_4980
 
 
 Unknown
 
 
 LOC401164
 
 engchuan_15_ASD_discovery_cases-case16033_1571008001
 
 
 Unknown
 
 
 DUX2;DUX4;DUX4L2;DUX4L3;DUX4L4;DUX4L5;DUX4L6;DUX4L7;FRG1;FRG2;HSP90AA4P;LOC100288255;TUBB4Q
 
 engchuan_15_ASD_discovery_cases-case20052_1277001
 
 
 Unknown
 
 
 LOC401164
 
 engchuan_15_ASD_discovery_cases-case20052_1277001
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case2290_1
 
 
 Unknown
 
 
 LOC401164
 
 engchuan_15_ASD_discovery_cases-case3053_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3072_8
 
 
 Unknown
 
 
 HSP90AA4P;LOC401164
 
 engchuan_15_ASD_discovery_cases-case3072_8
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3079_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3437_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3505_3
 
 
 Unknown
 
 
 LOC401164
 
 engchuan_15_ASD_discovery_cases-case3505_3
 
 
 Unknown
 
 
 TRIML1;TRIML2;ZFP42
 
 engchuan_15_ASD_discovery_cases-case3615_3
 
 
 Unknown
 
 
 LOC401164
 
 engchuan_15_ASD_discovery_cases-case3618_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3618_3
 
 
 Unknown
 
 
 LOC401164
 
 engchuan_15_ASD_discovery_cases-case4022_1
 
 
 Unknown
 
 
 LOC401164;TRIML1;TRIML2;ZFP42
 
 engchuan_15_ASD_discovery_cases-case4273_1
 
 
 Unknown
 
 
 FRG1;FRG2;LOC100288255;TUBB4Q
 
 engchuan_15_ASD_discovery_cases-case4324_1
 
 
 Unknown
 
 
 FRG1
 
 engchuan_15_ASD_discovery_cases-case5351_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case5351_3
 
 
 Unknown
 
 
 FAT1;LOC285441;MTNR1A
 
 engchuan_15_ASD_discovery_cases-case5532_3
 
 
 Unknown
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1067302
 
 
 Inherited
 
 
 FRG1
 
 gai_11_ASD_replication_cases-AU020604
 
 
 Inherited
 
 
 ZFP42, TRIML2, TRIML1
 
 gilling_08_ASD_discovery_cases-case1
 FISH
 
 Paternal
 Simplex
 Unknown
 MTNR1A, FAT
 
 girirajan_11_ASD_discovery_cases-Si199
 
 
 Unknown
 Simplex
 
 0 genes
 
 girirajan_13a_ASD_discovery_cases-AU020604
 
 
 Unknown
 Multiplex
 Unknown
 ZFP42,TRIML2,TRIML1
 
 girirajan_13b_ASD_discovery_cases-31008110295
 
 
 Unknown
 Unknown
 Unknown
 FRG1,LOC100288255,FRG2
 
 girirajan_13b_ASD_discovery_cases-63104102826
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 hanchard_12_ASD_discovery_cases-case1
 
 Paternal: epilepsy. Both parents: cognitive processing problems.
 Maternal
 Multiplex
 CNV possibly segregates with autistic features/ASD and sleep problems in pedigree
 MTNR1A, FAT1
 
 handrigan_13_ASD/DD/ID_discovery_cases-patient8
 
 
 Maternal
 Unknown
 Unknown
 TRIML2,TRIML1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000070
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 KLKB1,F11,MTNR1A,FAT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000633
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FRG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001015
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001757
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MTNR1A,FAT1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002430
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002560
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRIML1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003792
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ZFP42,TRIML2,TRIML1,FRG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003809
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FRG1,LOC100288255,FRG2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004004
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 FRG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004192
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ZFP42,TRIML2,TRIML1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004237
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FRG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004809
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FRG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004907
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ZFP42,TRIML2,TRIML1,FRG1,LOC100288255,FRG2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005138
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ZFP42,TRIML2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005273
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TRIML1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005436
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 krumm_13_ASD_discovery_cases-case12100.p1
 
 
 Paternal
 Simplex
 Segregated
 F11, MTNR1A
 
 krumm_15_ASD_discovery_cases-case12100.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 F11,MTNR1A,Intron (6/14),Intron (7/14),Intron (8/14),Intron (10/14),Intron (11/14),Intron (12/14),Intron (13/14),Intron (14/14),Exon (15/15),Exon (2/2),Intron (1/1)
 
 krumm_15_ASD_discovery_cases-case14374.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRIML2,TRIML1,Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7),Exon (3/8),Intron (2/7),Exon (2/8),Intron (1/7),Exon (1/8),Intron (6/6),Exon (6/7),Intron (5/6),Exon (5/7),Intron (4/6),Exon (4/7),Intron (3/6),Exon (3/7),Intron (2/6),Exon (2/7),Intron (1/6),Exon (1/7),Exon (1/6),Intron (1/5),Exon (2/6),Intron (2/5),Exon (3/6),Intron (3/5),Intron (4/5),Exon (5/6),Intron (5/5)
 
 levy_11_ASD_discovery_cases-12100.p1
 
 
 Paternal
 Simplex
 Segregated
 F11
 
 marshall_08_ASD_discovery_cases-MM0019-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 HSP90AA4P,FRG1
 
 marshall_08_ASD_discovery_cases-MM0109-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 LOC401164
 
 marshall_08_ASD_discovery_cases-SK0074-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 LOC339975,ZFP42,TRIML2,TRIML1,LOC401164
 
 marshall_08_ASD_discovery_cases-SK0083-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 0 genes
 
 marshall_08_ASD_discovery_cases-SK0112-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 LOC401164
 
 moessner_07_ASD_discovery_cases-case1
 
 
 Paternal
 Simplex
 NA
 HSP90AA4P
 
 moessner_07_ASD_discovery_cases-case1
 
 
 Paternal
 Simplex
 NA
 LOC401164
 
 moreira_14_ASD/EP_discovery_cases-case4
 
 
 Maternal
 Unknown
 Unknown
 TLR3,FAM149A,CYP4V2
 
 nava_13_ASD_discovery_cases-Fam762Proband9995
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2436
 FISH
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 pinto_10_ASD_discovery_cases-case3072_008
 qPCR-Paternal
 
 paternal
 Simplex
 NA
 0 genes
 
 poultney_13_ASD_discovery_cases-case99HI0890A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZFP42,TRIML2,TRIML1
 
 prasad_12_ASD_discovery_cases-case170300
 
 
 Unknown
 Unknown
 Unknown
 TRIML2
 
 prasad_12_ASD_discovery_cases-case47602
 
 
 Unknown
 Unknown
 Unknown
 FRG1
 
 prasad_12_ASD_discovery_cases-case59640L
 
 
 Unknown
 Unknown
 Unknown
 LOC401164
 
 prasad_12_ASD_discovery_cases-case59997L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case60910L
 
 
 Unknown
 Unknown
 Unknown
 LOC401164,ZFP42,TRIML2,TRIML1
 
 prasad_12_ASD_discovery_cases-case93185
 
 
 Unknown
 Unknown
 Unknown
 HSP90AA4P
 
 roberts_13_ASD/DD/ID_discovery_cases-ASDcase3
 BACs aCGH or FISH
 
 Unknown
 Unknown
 Unknown
 MTNR1A,FAT1
 
 rosenfeld_10_ASD_discovery_cases-case13402
 FISH
 
 Maternal
 Unknown
 Unknown
 0 genes
 
 rosenfeld_10_ASD_discovery_cases-case17377
 FISH
 
 Maternal
 Unknown
 Unknown
 0 genes
 
 rosenfeld_10_ASD_discovery_cases-case21007
 FISH
 
 Maternal
 Unknown
 Unknown
 ZFP42,TRIML2
 
 rosenfeld_10_ASD_discovery_cases-case21622
 FISH
 
 Maternal
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11041.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FAT1, MTNR1A
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11156.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11167.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FRG1, TUBB4Q
 
 sanders_11_ASD_discovery_cases-11241.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FRG1, TUBB4Q
 
 sanders_11_ASD_discovery_cases-11241.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11263.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11322.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11398.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11421.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11446.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11540.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11843.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11928.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11995.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12030.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12030.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FRG1, TUBB4Q
 
 sanders_11_ASD_discovery_cases-12051.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12100.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 F11, FAT1, MTNR1A
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DUX4, FRG1, FRG2, LOC653543, LOC653544, LOC653545, LOC728410, TUBB4Q
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12361.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12363.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12865.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 shen_10_ASD_discovery_cases-ASD-09-039
 
 
 Unknown
 NA
 NA
 IRF2,CASP3,CCDC111,MLF1IP,ACSL1,SLED1,LOC731424,MIR3945,LOC100506229,HELT,SLC25A4,KIAA1430,SNX25,LRP2BP,ANKRD37,UFSP2,C4orf47,CCDC110
 
 szatmari_07_ASD_discovery_cases-NAAR023-D9-3046.001
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC401164
 
 szatmari_07_ASD_discovery_cases-NAAR023-F9-3046.003
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC401164
 
 szatmari_07_ASD_discovery_cases-NAAR024-A12-3072.008
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC401164,HSP90AA4P
 
 szatmari_07_ASD_discovery_cases-NAAR024-B12-3072.009
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC401164,HSP90AA4P
 
 szatmari_07_ASD_discovery_cases-NAAR024-G11-3072.006
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC401164,HSP90AA4P
 
 szatmari_07_ASD_discovery_cases-NAAR027-C6-3120.003
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 0 genes
 
 szatmari_07_ASD_discovery_cases-NAAR027-D6-3120.004
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 0 genes
 
 szatmari_07_ASD_discovery_cases-NAAR027-E6-3120.005
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 0 genes
 
 szatmari_07_ASD_discovery_cases-NAAR041-G10-01C05471
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 HSP90AA4P
 
 szatmari_07_ASD_discovery_cases-NAAR041-G7-01C05468
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 HSP90AA4P
 
 szatmari_07_ASD_discovery_cases-NAAR062-D4-HI0888
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC401164
 
 szatmari_07_ASD_discovery_cases-NAAR062-D5-HI0889
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC339975,ZFP42,TRIML2,TRIML1,LOC401164
 
 szatmari_07_ASD_discovery_cases-NAAR062-D6-HI0890
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 ZFP42,TRIML2,TRIML1,LOC401164
 
 szatmari_07_ASD_discovery_cases-NAAR062-D7-HI0891
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 ZFP42
 
 szatmari_07_ASD_discovery_cases-NAAR070-H5-HI3148
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 0 genes
 
 szatmari_07_ASD_discovery_cases-NAAR071-A5-HI3159
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 0 genes
 
 szatmari_07_ASD_discovery_cases-NAAR071-A7-HI3161
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 0 genes
 
 szatmari_07_ASD_discovery_cases-NAAR073-E12-04C35554
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC401164
 
 szatmari_07_ASD_discovery_cases-NAAR073-F2-04C35556
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC401164
 
 szatmari_07_ASD_discovery_cases-NAAR073-H10-04C35587
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 LOC401164
 
 walker_13_ASD_discovery_cases-case1-0455-003
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 wang_10_ASD_discovery_cases-AC0025
 
 
 Unknown
 NA
 NA
 FRG1, TUBB4Q
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036022796_
 
 
  Unknown
 
 
  LOC401164;TRIML1;TRIML2;ZFP42
 
engchuan_15_ASD_discovery_controls-control110036023588_
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
 
 
  Unknown
 
 
  LOC401164
 
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
 
 
  Unknown
 
 
  HSP90AA4P
 
engchuan_15_ASD_discovery_controls-controlB456613_1007854343
 
 
  Unknown
 
 
  HSP90AA4P
 
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
 
 
  Unknown
 
 
  LOC401164
 
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB534543_1007874558
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB537495_1007853968
 
 
  Unknown
 
 
  TRIML1;TRIML2;ZFP42
 
engchuan_15_ASD_discovery_controls-controlB621960_1007854303
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB621960_1007854303
 
 
  Unknown
 
 
  ZFP42
 
engchuan_15_ASD_discovery_controls-controlB787602_1007874634
 
 
  Unknown
 
 
  TRIML1;TRIML2
 
engchuan_15_ASD_discovery_controls-controlB894345_1007872589
 
 
  Unknown
 
 
  LOC401164
 
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
 
 
  Unknown
 
 
  LOC401164
 
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
 
 
  Unknown
 
 
  LOC401164
 
engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
 
 
  Unknown
 
 
  LOC401164
 
engchuan_15_ASD_discovery_controls-controlHABC_900428_900428
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
 
 
  Unknown
 
 
  LOC401164;TRIML1
 
engchuan_15_ASD_discovery_controls-controlHABC_901025_901025
 
 
  Unknown
 
 
  FRG1;TUBB4Q
 
engchuan_15_ASD_discovery_controls-controlHABC_901025_901025
 
 
  Unknown
 
 
  HSP90AA4P
 
engchuan_15_ASD_discovery_controls-controlHABC_901058_901058
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
 
 
  Unknown
 
 
  FRG1;TUBB4Q
 
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
 
 
  Unknown
 
 
  FRG1
 
engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902612_902612
 
 
  Unknown
 
 
  HSP90AA4P
 
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
 
 
  Unknown
 
 
  HSP90AA4P
 
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_902889_902889
 
 
  Unknown
 
 
  LOC401164
 
engchuan_15_ASD_discovery_controls-controlHABC_902889_902889
 
 
  Unknown
 
 
  0 genes
 
girirajan_11_ASD_discovery_controls-NIMH_117
 
 
  Unknown
 
 
  ZFP42,TRIML2,TRIML1
 
girirajan_11_ASD_discovery_controls-NIMH_169
 
 
  Unknown
 
 
  FRG1,LOC100288255,FRG2
 
krumm_13_ASD_discovery_controls-control11429.s1
 
 
  Paternal
  Simplex
 
  TRIML2, TRIML1
 
krumm_15_ASD_discovery_controls-control11429.s1
  Illumina 1M
 
  Paternal
 
 
  TRIML2,TRIML1,Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7),Exon (3/8),Intron (2/7),Exon (2/8),Intron (1/7),Exon (1/8),Intron (6/6),Exon (6/7),Intron (5/6),Exon (5/7),Intron (4/6),Exon (4/7),Intron (3/6),Exon (3/7),Intron (2/6),Exon (2/7),Intron (1/6),Exon (1/7),Exon (1/6),Intron (1/5),Exon (2/6),Intron (2/5),Exon (3/6),Intron (3/5),Intron (4/5),Exon (5/6),Intron (5/5)
 
krumm_15_ASD_discovery_controls-control11473.s1
  Illumina 1M
 
  Paternal
 
 
  MTNR1A,FAT1,Intron (1/1),Exon (1/2),Exon (27/27),Intron (26/26),Exon (26/27),Intron (25/26),Exon (25/27),Intron (24/26),Exon (24/27),Intron (23/26),Exon (23/27),Intron (22/26),Exon (22/27),Intron (21/26),Exon (21/27),Intron (20/26),Exon (20/27),Intron (19/26),Exon (19/27),Intron (18/26),Exon (18/27),Intron (17/26),Exon (17/27),Intron (16/26)
 
krumm_15_ASD_discovery_controls-control14374.s1
  Omni2.5-4v1
 
  Maternal
 
 
  TRIML2,TRIML1,Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7),Exon (3/8),Intron (2/7),Exon (2/8),Intron (1/7),Exon (1/8),Intron (6/6),Exon (6/7),Intron (5/6),Exon (5/7),Intron (4/6),Exon (4/7),Intron (3/6),Exon (3/7),Intron (2/6),Exon (2/7),Intron (1/6),Exon (1/7),Exon (1/6),Intron (1/5),Exon (2/6),Intron (2/5),Exon (3/6),Intron (3/5),Intron (4/5),Exon (5/6),Intron (5/5)
 
nord_11_ASD_discovery_controls-04C28078
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28230
 
 
 
 
 
  0 genes
 
nord_11_ASD_discovery_controls-04C28420
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control04C28851A
 
 
  Unknown
 
 
  FRG1
 
poultney_13_ASD_discovery_controls-control04C29546A
 
 
  Unknown
 
 
  ZFP42,TRIML2,TRIML1
 
poultney_13_ASD_discovery_controls-control04C37412B
 
 
  Unknown
 
 
  TRIML2
 
poultney_13_ASD_discovery_controls-control04C37423A
 
 
  Unknown
 
 
  ZFP42,TRIML2,TRIML1
 
poultney_13_ASD_discovery_controls-control04C38506A
 
 
  Unknown
 
 
  MTNR1A,FAT1
 
sanders_11_ASD_discovery_controls-11041.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11071.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11071.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FAT1, MTNR1A
 
sanders_11_ASD_discovery_controls-11073.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11239.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FRG1, TUBB4Q
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11421.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11429.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TRIML1, TRIML2
 
sanders_11_ASD_discovery_controls-11473.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FAT1, MTNR1A
 
sanders_11_ASD_discovery_controls-11599.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11601.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11654.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11839.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11843.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12051.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12281.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12281.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12418.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FRG1, FRG2, TUBB4Q
 
sanders_11_ASD_discovery_controls-12532.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12865.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12894.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13006.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13063.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13077.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
wang_10_ASD_discovery_controls-Aut141
 
 
  Unknown
  NA
  NA
  TRIML1 (1080146 upstream); FRG1 (116082 downstream)
 
wang_10_ASD_discovery_controls-Aut37
 
 
  Unknown
  NA
  NA
  FLJ25801, TRIML1, ZFP42
 

No Animal Model Data Available
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