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11q22.1CNV Type: Deletion-Duplication


Largest CNV size: 798648 bp

Statistics Box:
Number of Reports: 16



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
N/A

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 2974
 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
 366968
 14
 5
 19
 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
 
 
 213494
 1
 0
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 196648
 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
 714000
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1036772
 1
 4
 5
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 41657
 2
 0
 2
 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
 301123
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 626620
 N/A
 N/A
 3
 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
 
 
 141042
 2
 0
 2
 mercati_16_ASD_discovery_cases
 ASD probands from the Paris Autism Research International Sibpair (PARIS) cohort screened for CNVs involving CNTN5 and CNTN6
 633
 Diagnosis of ASD based on clinical expert assessment including ADI-R or DISCO-10 and ADOS. Intellectual quotient measured using age-appropriate Wechsler scale, Raven's Standard Progressive Matrices, or Peabody Picture Vocabulary Test.
 <12 yrs., n=11; 12-<18 yrs., n=119; 18 years or older, n=317; age N/A, n=186
 82.46% Male
 95461
 1
 0
 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 (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 25282
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 16942
 0
 1
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 216433
 1
 1
 2
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 91087
 1
 1
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 741390
 16
 3
 19
 van_daalen_11_ASD_discovery_cases
 ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
 50
 ASD (DSM-IV-TR, ADOS-G, and ADI-R)
 
 
 798648
 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
 634331
 9
 6
 15
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 399257
 2
 0
 2
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 273311
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 82634
 1
 0
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 124309
 0
 1
 1
 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
 mercati_16_ASD_discovery_controls
 Controls from this study (n=2126), SAGE+ Hapmap3 (Pinto et al., 2010; n=1287), HBAC (n=2566), KORA (n=1775), and COGEND (n=1182) screened for CNTN5 and CNTN6 CNVs
 8936
 Control
 N/A
 N/A
 N/A
 1
 3
 4
 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.
 
 0
 0
 0
 0
 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)
 91087
 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.
 
 63977
 11
 6
 17

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 mercati_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 660W Quad, Illumina 1M duo, Illumina Omni1, Illumina Omni2.5
 PennCNV, QuantiSNP
 
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 van_daalen_11_ASD_discovery_cases
  Netherlands
 Solid phase hybridization
  Illumina HumanHap300 BeadChip
 
 Beadstudio V2.3.41
 Inheritance

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  No
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  mercati_16_ASD_discovery_controls
  N/A
  Solid phase hybridization
  Illumina 660Wq, Illumina 1M, Illumina 1M duo, Illumina Omni1, Illumina 2.5M, Illumina 2.5M Quad, Illumina 5M
 
 
  None
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_cases-caseSSC02434
 N/A
 F
 ASD
 Case from SSC_phase1 cohort
 
 102111167
 102114141
  2975
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14312_4290
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99163130
 99219777
  56648
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14328_4420
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16035_1571013001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20078_1350001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20164_1684001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2185_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 97572131
 97939099
  366969
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3029_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99646084
 99696051
  49968
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3225_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100976769
 101027617
  50849
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3264_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4139_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99653603
 99699783
  46181
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4310_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101533914
 101577066
  43153
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4318_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4338_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100459877
 100513750
  53874
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6034_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 98521880
 98561466
  39587
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6045_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6176_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99036873
 99100742
  63870
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6191_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99036873
 99100742
  63870
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6403_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99742967
 99838427
  95461
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8529_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 98278091
 98342068
  63978
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1668303
 
 
 Autism
 
 
 96760722
 96974215
  213494
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU086804
 
 
 Autism
 
 
 96973620
 97170267
  196648
 Unknown
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-12892.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 100044058
 100754059
  710002
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000871
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100042662
 100756524
  713863
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002696
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 101580685
 101907935
  327251
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003910
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 97402156
 98439199
  1037044
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003953
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 101139357
 101615307
  475951
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004808
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100325350
 100842425
  517076
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1966
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 99525126
 99566782
  41657
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case2954
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 99525126
 99566782
  41657
 Unknown
 Deletion
 No
  krumm_13_ASD_discovery_cases-case11229.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11229. SRS score of 73.
 Full-scale IQ (FSIQ) score of 63.
 100687678
 100988801
  301124
 GRCh38
 Duplication
 No
  krumm_15_ASD_discovery_cases-case12752.p1
 N/A
 N/A
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type:
 
 100340463
 100913553
  573091
 GRCh38
 N/A
 Yes
  krumm_15_ASD_discovery_cases-case12892.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 100061211
 100687832
  626622
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14419.p1
 N/A
 N/A
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type:
 
 100297611
 100356222
  58612
 GRCh38
 N/A
 Yes
  marshall_08_ASD_discovery_cases-MM0212-004
 NA
 F
 ASD
 NA
 NA
 99772261
 99913301
  141041
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0167-003
 NA
 F
 ASD
 RL/EL average/mild delay, moderate speech apraxia
 IQ/LOF 62
 101755844
 101870960
  115117
 GRCh38
 Deletion
 Yes
  mercati_16_ASD_discovery_cases-probandAU-GRE-165
 N/A
 M
 ASD and ID
 Case presents with abnormal hypersensitivity to sound and abnormal motor coordination ability. Family history: 11q22.1/CNTN5 deletion inherited from unaffected mother.
 Intellectual disability
 99742967
 99838427
  95461
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam1086Proband10774
 N/A
 N/A
 ASD
 Additional clinical profile info N/A
 No ID
 99670769
 99696051
  25283
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-226-1
 
 
 ASD
 
 
 100316321
 100333262
  16942
 Unknown
 Duplication
 No
  pinto_10_ASD_discovery_cases-case1967_303
 NA
 F
 ASD
 NA
 NA
 96757799
 96974231
  216433
 Unknown
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case6191_3
 NA
 M
 Autism
 No language delay, macrocephaly, no dysmorphic features, no epilepsy
 Mild MR
 99036873
 99100742
  63870
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case115728L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 98990619
 99003389
  12771
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60966-L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 101134567
 101225653
  91087
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11110.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
 99776955
 99784061
  7107
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 99776955
 99784061
  7107
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11250.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
 101801270
 101858890
  57621
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 98278091
 98342068
  63978
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11931.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
 99776955
 99784061
  7107
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11986.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12106.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 100416528
 100520319
  103792
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 97688996
 97730350
  41355
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12426.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 98610663
 98624544
  13882
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12454.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
 97688996
 97730350
  41355
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12622.p1
 15.1
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12670.p1
 10.5
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 99776955
 99791193
  14239
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12704.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 106
 99653603
 99696051
  42449
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 97688996
 97730350
  41355
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12858.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
 102105640
 102117330
  11691
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12892.p1
 6.3
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
 100019017
 100760408
  741392
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12956.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
 97688996
 97730350
  41355
 GRCh38
 Deletion
 No
  van_daalen_11_ASD_discovery_cases-M2
 9 yrs.
 M
 ASD
 DSM-IV-TR classification: autism spectrum disorder; ADOS-G classification: autism spectrum disorder; ADI-R classification: autism spectrum disorder. SRS score: 69. Family history of ASD and/or intellectual disability. Facial dysmorphic features. Family phenotypes: father's SRS score, 66; mother's SRS score, 41; brother1's SRS score, 69 (ASD diagnosis); brother2's SRS score, 73 (ASD diagnosis).
 Mullen Scales of Early Learning (MSEL) cognitive score: 100
 99617880
 100416528
  798649
 GRCh38
 Deletion
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB234785_1007841252
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101530713
  101566151
  35439
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB269904_1007853875
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97849680
  98475377
  625698
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB435595_1007840518
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99838427
  100255662
  417236
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB525251_1007853680
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99593946
  99638468
  44523
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB712038_0067942594
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99653603
  99699783
  46181
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB757540_1007846068
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101153551
  101202941
  49391
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB769494_1007846090
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101530713
  101566151
  35439
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB774739_1007872529
  N/A
  N/A
  Control
  No previous psychiatric history
 
  98334852
  98377015
  42164
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB781862_1007846109
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99653603
  99696051
  42449
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB818952_1007874830
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101530713
  101566151
  35439
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900160_900160
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99653603
  99696051
  42449
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900507_900507
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97849680
  98475377
  625698
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900860_900860
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97849680
  98484282
  634603
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900933_900933
  N/A
  N/A
  Control
  No previous psychiatric history
 
  98709456
  98829197
  119742
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901053_901053
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99653603
  99696051
  42449
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1373
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  97663464
  98062720
  399257
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split507
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  99525126
  99566782
  41657
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11115.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11115. SRS score of 50.
 
  100687678
  100960989
  273312
  GRCh38
  Duplication
  No
  kushima_18_ASD/SCZ_discovery_controls-controlCON1486
  19 yrs.
  F
  Control
  This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
 
  99860757
  99943390
  82634
  GRCh38
  Deletion
  N/A
  levy_11_ASD_discovery_controls-12019.s1
  NA
  M
  Control
  NA
  NA
  101767109
  101891417
  124309
  GRCh38
  Duplication
  No
  mercati_16_ASD_discovery_controls-control1
  N/A
  N/A
  Control
  Control from HBAC
 
  N/A
  N/A
  N/A
  GRCh37
  Deletion
  No
  mercati_16_ASD_discovery_controls-control2
  N/A
  N/A
  Control
  Control from SAGE + Hapmap3 (Pinto et al., 2010)
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control3
  N/A
  N/A
  Control
  Control from HBAC
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  mercati_16_ASD_discovery_controls-control4
  N/A
  N/A
  Control
  Control from KORA
 
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  No
  sanders_11_ASD_discovery_controls-11032.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  98988231
  99049512
  61282
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11110.s1
  16.8
  M
  Control (matched sibling)
  NA
  NA
  99776955
  99784061
  7107
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11250.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  101801270
  101858890
  57621
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11550.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  99776955
  99784061
  7107
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11573.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  99653603
  99703140
  49538
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11575.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  99774637
  99784061
  9425
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11905.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  99653603
  99703140
  49538
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11962.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  97688996
  97730350
  41355
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12317.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  98278091
  98342068
  63978
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12334.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  99653603
  99703140
  49538
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12424.s1
  6.2
  F
  Control (matched sibling)
  NA
  NA
  99617880
  99619715
  1836
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12426.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  98612472
  98624544
  12073
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12498.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  101533914
  101566266
  32353
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  97686786
  97730350
  43565
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12851.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  97947476
  98004245
  56770
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13174.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  98334852
  98375695
  40844
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13324.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  98278091
  98342068
  63978
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseSSC02434
 Determined to be false positive after PCR or SNP data validation
 
 Maternal
 
 
 YAP1
 
 engchuan_15_ASD_discovery_cases-case14312_4290
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case14328_4420
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case16035_1571013001
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case20078_1350001
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case20164_1684001
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case2185_1
 
 
 Unknown
 
 
 RNA5SP347
 
 engchuan_15_ASD_discovery_cases-case3029_4
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case3225_3
 
 
 Unknown
 
 
 ARHGAP42
 
 engchuan_15_ASD_discovery_cases-case3264_3
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case4139_1
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case4310_1
 
 
 Unknown
 
 
 TRPC6
 
 engchuan_15_ASD_discovery_cases-case4318_1
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case4338_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6034_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6045_3
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case6176_3
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case6191_3
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case6403_3
 
 
 Unknown
 
 
 CNTN5
 
 engchuan_15_ASD_discovery_cases-case8529_201
 
 
 Unknown
 
 
 
 
 gai_11_ASD_discovery_cases-AU1668303
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU086804
 
 
 Inherited
 
 
 0 genes
 
 girirajan_13a_ASD_discovery_cases-12892.p1
 
 
 Unknown
 Simplex
 Unknown
 RPA2P3,RN7SL222P,PPIAP43,ARHGAP42,CNTN5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000871
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RPA2P3,RN7SL222P,PPIAP43,ARHGAP42,CNTN5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002696
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ANGPTL5,TRPC6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003910
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RNA5SP347
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003953
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MIR3920,PGR-AS1,TRPC6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004808
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPA2P3,RN7SL222P,PPIAP43,RN7SKP115,ARHGAP42,CNTN5
 
 kanduri_15_ASD_discovery_cases-case1966
 
 
 Maternal
 Unknown
 Unknown
 CNTN5 (intronic)
 
 kanduri_15_ASD_discovery_cases-case2954
 
 
 Maternal
 Unknown
 Unknown
 CNTN5 (intronic)
 
 krumm_13_ASD_discovery_cases-case11229.p1
 Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
 Paternal
 Simplex
 Segregated
 RN7SKP115,ARHGAP42
 
 krumm_15_ASD_discovery_cases-case12752.p1
 aCGH
 
 Maternal
 Simplex
 Unknown
 RN7SL222P,PPIAP43,RN7SKP115,ARHGAP42,CNTN5
 
 krumm_15_ASD_discovery_cases-case12892.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 RPA2P3,RN7SL222P,PPIAP43,ARHGAP42,CNTN5
 
 krumm_15_ASD_discovery_cases-case14419.p1
 aCGH
 
 Maternal
 Simplex
 Unknown
 RPA2P3,CNTN5
 
 marshall_08_ASD_discovery_cases-MM0212-004
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 CNTN5
 
 marshall_08_ASD_discovery_cases-SK0167-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 TRPC6
 
 mercati_16_ASD_discovery_cases-probandAU-GRE-165
 CNV validation not reported
 
 Maternal
 Simplex
 Unknown
 CNTN5
 
 nava_13_ASD_discovery_cases-Fam1086Proband10774
 
 
 Unknown
 Unknown
 Unknown
 CNTN5
 
 nord_11_ASD_discovery_cases-226-1
 
 
 Unknown
 
 
 FLJ32810
 
 pinto_10_ASD_discovery_cases-case1967_303
 Illumina550
 
 paternal
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case6191_3
 qPCR-Maternal
 
 maternal
 Simplex (sib with MR)
 Unknown
 CNTN5
 
 prasad_12_ASD_discovery_cases-case115728L
 
 
 Unknown
 Unknown
 Unknown
 CNTN5
 
 prasad_12_ASD_discovery_cases-case60966-L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11110.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN5
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN5
 
 sanders_11_ASD_discovery_cases-11250.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TRPC6
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11931.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CNTN5
 
 sanders_11_ASD_discovery_cases-11986.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN5
 
 sanders_11_ASD_discovery_cases-12106.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN5
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CNTN5
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12426.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12454.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12622.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 CNTN5
 
 sanders_11_ASD_discovery_cases-12670.p1
 
 
 Paternal
 Simplex (trio)
 NA
 CNTN5
 
 sanders_11_ASD_discovery_cases-12704.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CNTN5
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12858.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 YAP1
 
 sanders_11_ASD_discovery_cases-12892.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RPA2P3,RN7SL222P,PPIAP43,ARHGAP42,CNTN5
 
 sanders_11_ASD_discovery_cases-12956.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 van_daalen_11_ASD_discovery_cases-M2
 Inheritance
 
 Paternal
 Multiplex
 Segregated
 RPA2P3,CNTN5
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB234785_1007841252
 
 
  Unknown
 
 
  TRPC6
 
engchuan_15_ASD_discovery_controls-controlB269904_1007853875
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB435595_1007840518
 
 
  Unknown
 
 
  CNTN5
 
engchuan_15_ASD_discovery_controls-controlB525251_1007853680
 
 
  Unknown
 
 
  CNTN5
 
engchuan_15_ASD_discovery_controls-controlB712038_0067942594
 
 
  Unknown
 
 
  CNTN5
 
engchuan_15_ASD_discovery_controls-controlB757540_1007846068
 
 
  Unknown
 
 
  PGR-AS1
 
engchuan_15_ASD_discovery_controls-controlB769494_1007846090
 
 
  Unknown
 
 
  TRPC6
 
engchuan_15_ASD_discovery_controls-controlB774739_1007872529
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB781862_1007846109
 
 
  Unknown
 
 
  CNTN5
 
engchuan_15_ASD_discovery_controls-controlB818952_1007874830
 
 
  Unknown
 
 
  TRPC6
 
engchuan_15_ASD_discovery_controls-controlHABC_900160_900160
 
 
  Unknown
 
 
  CNTN5
 
engchuan_15_ASD_discovery_controls-controlHABC_900507_900507
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900860_900860
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900933_900933
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901053_901053
 
 
  Unknown
 
 
  CNTN5
 
kanduri_15_ASD_discovery_controls-control_split1373
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR7976(dist=172569),CNTN5(dist=828986)
 
kanduri_15_ASD_discovery_controls-control_split507
 
 
  Unknown
 
 
  CNTN5 (intronic)
 
krumm_13_ASD_discovery_controls-control11115.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  RN7SKP115,ARHGAP42
 
kushima_18_ASD/SCZ_discovery_controls-controlCON1486
  While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
  Unknown
 
 
  CNTN5
 
levy_11_ASD_discovery_controls-12019.s1
 
 
  Paternal
  Simplex
  NA
  ANGPTL5,TRPC6
 
mercati_16_ASD_discovery_controls-control1
  CNV validation not reported
 
  Unknown
 
 
  CNTN5
 
mercati_16_ASD_discovery_controls-control2
  CNV validation not reported
 
  Unknown
 
 
  CNTN5
 
mercati_16_ASD_discovery_controls-control3
  CNV validation not reported
 
  Unknown
 
 
  CNTN5
 
mercati_16_ASD_discovery_controls-control4
  CNV validation not reported
 
  Unknown
 
 
  CNTN5
 
sanders_11_ASD_discovery_controls-11032.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN5
 
sanders_11_ASD_discovery_controls-11110.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN5
 
sanders_11_ASD_discovery_controls-11250.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TRPC6
 
sanders_11_ASD_discovery_controls-11550.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN5
 
sanders_11_ASD_discovery_controls-11573.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CNTN5
 
sanders_11_ASD_discovery_controls-11575.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN5
 
sanders_11_ASD_discovery_controls-11905.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN5
 
sanders_11_ASD_discovery_controls-11962.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12317.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12334.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN5
 
sanders_11_ASD_discovery_controls-12424.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CNTN5
 
sanders_11_ASD_discovery_controls-12426.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12498.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TRPC6
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12851.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13174.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13324.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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