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11p14.3CNV Type: Deletion-Duplication


Largest CNV size: 2442703 bp

Statistics Box:
Number of Reports: 19



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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
NA
Duplication

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.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 147404
 8
 2
 10
 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
 
 
 122157
 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
 
 
 189466
 2
 1
 3
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 73521
 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.
 
 
 5088600
 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
 3260094
 2
 1
 3
 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
 600753
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 618524
 1
 1
 2
 leblond_12_ASD_replication_cases
 Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
 2
 1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
 NA
 100% Male
 16872
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 2442703
 0
 1
 1
 moreira_16_ASD_discovery_cases
  NA NA
 ASD cases either referred to the Human Genome and Stem-Cell Research Center (HUG-CELL), Sao Paulo (most ascertained at the Institute of Psychiatry, University of Sao Paulo) or ascertained at the Hospital de Base, Faculty of Medicine od Sao Jose do Rio Preto; cohort derived from total of 505 Brazilian patients with idiopathic ASD
 98
 Diagnosis of ASD based on DSM-IV or DSM-V; additional evaluation performed in most cases using CARS and/or ADI-R
 
 
 9000
 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 (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 95000
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 33338
 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
 
 
 68013
 2
 1
 3
 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
 138647
 4
 2
 6
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 166777
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 1714344
 14
 3
 17
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 1000
 0
 2
 2
 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
 138441
 3
 0
 3
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 334155
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 249485
 3
 10
 13
 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.
 
 
 5088600
 0
 0
 0
 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
 606736
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 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
 618524
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 618524
 2
 0
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 2442703
 0
 1
 1
 moreira_16_ASD_discovery_controls
  NA NA
 Brazilian control individuals
 200
 Control
 N/A
 N/A
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 10427
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 52105
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 138647
 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.
 
 1714434
 16
 1
 17
 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
 138441
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 334155
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 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
 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)
 leblond_12_ASD_replication_cases
  1 Canadian, 1 French
 Solid phase hybridization
  Illumina 1M SNP array
 QuantiSNP, PennCNV
 
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 moreira_16_ASD_discovery_cases
  Brazil
 aCGH
  Agilent custom 6x80K microarray
 ADM-2
 Agilent Feature Extraction. Agilent Genomic Workbench 7.0
 aCGH, array SNP, MLPA
 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
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 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
 
 
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 Long-range PCR, qPCR
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 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
 
 
  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
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 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
 
 
  moreira_16_ASD_discovery_controls
  Brazil
  aCGH
  Agilent custom 6x80K microarray
  ADM-2
  Agilent Feature Extraction. Agilent Genomic Workbench 7.0
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_cases-case13080_943
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22904859
 22938841
  33983
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14059_1020
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24284389
 24325010
  40622
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14173_2800
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22839394
 22874190
  34797
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14175_2820
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24199490
 24337931
  138442
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14208_3350
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24284389
 24325010
  40622
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16030_1571003001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23775165
 23843583
  68419
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4550_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25650111
 25797514
  147404
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5059_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22991885
 23022607
  30723
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5128_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25063750
 25104514
  40765
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5511_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21815683
 21883695
  68013
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1916302
 
 
 Autism
 
 
 24745253
 24867409
  122157
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU007605
 
 
 Autism
 
 
 24744777
 24797058
  52282
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU045004
 
 
 Autism
 
 
 25200577
 25390042
  189466
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU048204
 
 
 Autism
 
 
 21743522
 21821172
  77651
 Unknown
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case567-3
 6 yrs.
 M
 ASD
 ASD, abnormal muscular development
 N/A
 25643255
 25716775
  73521
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si45
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 95; Non-verbal IQ, 131.
 21724974
 26813573
  5088600
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000816
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22080659
 22389549
  308891
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002601
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21948209
 22239692
  291484
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004683
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22115602
 25375696
  3260095
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case12523.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12523. SRS score of 49.
 Full-scale IQ (FSIQ) score of 91.
 22211263
 22812016
  600754
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case12437.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 24729168
 24763308
  34141
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12523.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 22193492
 22812016
  618525
 GRCh38
 Deletion
 Yes
  leblond_12_ASD_replication_cases-Pintocase6319_3
 NA
 M
 PDD-NOS
 ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
 Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
 25682289
 25699159
  16871
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-12066.p1
 NA
 M
 ASD
 NA
 NA
 21820322
 24263024
  2442703
 GRCh38
 Duplication
 No
  moreira_16_ASD_discovery_cases-case1
  NA NA
 N/A
 M
 ASD
 Phenotype: non-syndromic ASD (case does not present with dysmorphic features or congenital malformations)
 
 22370142
 22379522
  9381
 GRCh38
 Duplication
 Yes
  nava_13_ASD_discovery_cases-Fam587Proband10722
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 24458494
 24553844
  95351
 GRCh38
 Deletion
 No
  nord_11_ASD_discovery_cases-312-1
 
 
 ASD
 
 
 22972675
 23006012
  33338
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5059_4
 NA
 M
 ASD
 NA
 NA
 22991885
 23022607
  30723
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5128_4
 NA
 M
 ASD
 NA
 NA
 25063750
 25104514
  40765
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5511_3
 NA
 F
 ASD
 NA
 NA
 21815683
 21883695
  68013
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case114084L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 25046803
 25055534
  8732
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case117388L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 22175096
 22219068
  43973
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case122696L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 21796907
 21865139
  68233
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case154266L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 25198147
 25336793
  138647
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case51673
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 22979296
 23002386
  23091
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case62257L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 25046803
 25082797
  35995
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_420
 14 yrs.
 M
 Intellectual disability, epilepsy, and ADHD
 ADHD, epilepsy
 Mild intellectual disability
 22085987
 22252763
  166777
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11010.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 68; verbal IQ, 60
 23307248
 23316168
  8921
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11133.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
 25585228
 25604343
  19116
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11212.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
 25585228
 25604343
  19116
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11275.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
 25049886
 25152167
  102282
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11437.p1
 16.6
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 102; verbal IQ, 65
 25220804
 25379585
  158782
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11455.p1
 7.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
 22002186
 22024687
  22502
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11841.p1
 10.4
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
 25589440
 25604343
  14904
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 25623780
 25634906
  11127
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11859.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
 25585228
 25604343
  19116
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12011.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
 25579196
 25641869
  62674
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12130.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
 23775165
 23843583
  68419
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 25585228
 25604343
  19116
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12437.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 78; verbal IQ, 72
 24714947
 24765107
  50161
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12510.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
 25585228
 25604343
  19116
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12518.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
 25411197
 25412751
  1555
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12523.p1
 6.1
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
 21892672
 23607016
  1714345
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 25411197
 25412751
  1555
 GRCh38
 Deletion
 No
  szatmari_07_ASD_discovery_cases-NAAR076-G4-04C37169
 NA
 
 ASD
 NA
 NA
 21730978
 21731178
  201
 GRCh38
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR076-G5-04C37170
 NA
 
 ASD
 NA
 NA
 21730978
 21731178
  201
 GRCh38
 Duplication
 Yes
  walker_13_ASD_discovery_cases-case8-14059-1020
 N/A
 M
 ASD
 N/A
 N/A
 24284389
 24325010
  40622
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case8-14175-2820
 N/A
 M
 ASD
 N/A
 N/A
 24199490
 24337931
  138442
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case8-14208-3350
 N/A
 M
 ASD
 N/A
 N/A
 24284389
 24325010
  40622
 GRCh38
 Deletion
 Yes
  yin_16_ASD_discovery_cases-case407
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 21886923
 22221077
  334155
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036010999_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23775165
  23847713
  72549
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036025278_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23775165
  23847713
  72549
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB182878_1007875343
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21921221
  21984834
  63614
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB275079_1007852942
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23048214
  23101158
  52945
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB476509_1007853948
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25650111
  25710795
  60685
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB553894_1007850188
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25224384
  25342686
  118303
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB653776_1007846516
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25650111
  25710795
  60685
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB943713_1007844029
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25650111
  25710795
  60685
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB952452_1007843875
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23775165
  23847713
  72549
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25100812
  25294946
  194135
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22396834
  22646319
  249486
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900966_900966
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25072492
  25104514
  32023
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901130_901130
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25205231
  25264602
  59372
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-40005104405
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  21664038
  22270774
  606737
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12523.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12523. SRS score of 56.
 
  22193492
  22812016
  618525
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control11458.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  24729168
  25078658
  349491
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12523.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  22193492
  22812016
  618525
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-12066.s1
  NA
  F
  Control
  NA
  NA
  21820322
  24263024
  2442703
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C28409
 
 
  Control
 
 
  22796972
  22807398
  10427
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control04C28080A
  N/A
  F
  Control
  NIMH Control (NIMH ID 35000)
 
  22685666
  22737770
  52105
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11037.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  22991885
  23026393
  34509
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11098.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  22810510
  22859996
  49487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11190.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  21699152
  21934370
  235219
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11458.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  24572080
  25929772
  1357693
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11549.s1
  21.9
  F
  Control (matched sibling)
  NA
  NA
  25585228
  25604343
  19116
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  25584298
  25604343
  20046
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  24771614
  24848487
  76874
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12154.s1
  9.1
  F
  Control (matched sibling)
  NA
  NA
  25585228
  25604343
  19116
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12261.s1
  21.5
  M
  Control (matched sibling)
  NA
  NA
  25585228
  25604343
  19116
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12300.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  25650111
  25710795
  60685
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12510.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  25584298
  25604343
  20046
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12523.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  21892672
  23607106
  1714435
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12701.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  25589440
  25604343
  14904
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12785.s1
  16.8
  F
  Control (matched sibling)
  NA
  NA
  23924295
  23931146
  6852
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12799.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  22998359
  23022607
  24249
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13077.s1
  13.9
  M
  Control (matched sibling)
  NA
  NA
  22998359
  23022607
  24249
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13183.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  25411197
  25412751
  1555
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case13080_943
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14059_1020
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14173_2800
 
 
 Unknown
 
 
 CCDC179
 
 engchuan_15_ASD_discovery_cases-case14175_2820
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14208_3350
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case16030_1571003001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4550_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5059_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5128_4
 
 
 Unknown
 
 
 LUZP2
 
 engchuan_15_ASD_discovery_cases-case5511_3
 
 
 Unknown
 
 
 ANO5
 
 gai_11_ASD_discovery_cases-AU1916302
 
 
 Inherited
 
 
 LUZP2 (intronic)
 
 gai_11_ASD_replication_cases-AU007605
 
 
 Inherited
 
 
 LUZP2 (intronic)
 
 gai_11_ASD_replication_cases-AU045004
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU048204
 
 
 Inherited
 
 
 0 genes
 
 gazzellone_14_ASD_discovery_cases-case567-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_11_ASD_discovery_cases-Si45
 
 
 Maternal
 Simplex
 
 FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,RPL36AP40,MUC15,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,SLC5A12,GAS2,LUZP2,ANO3,ANO5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000816
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SLC17A6,ANO5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002601
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ANO5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004683
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,GAS2,LUZP2,ANO5
 
 krumm_13_ASD_discovery_cases-case12523.p1
 
 
 Maternal
 Simplex
 Not segregated
 FANCF,RNA5SP338,SLC17A6,LINC01495,GAS2,ANO5
 
 krumm_15_ASD_discovery_cases-case12437.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 LUZP2
 
 krumm_15_ASD_discovery_cases-case12523.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FANCF,RNA5SP338,SLC17A6,LINC01495,GAS2,ANO5
 
 leblond_12_ASD_replication_cases-Pintocase6319_3
 
 
 Paternal
 
 
 
 
 levy_11_ASD_discovery_cases-12066.p1
 
 
 Maternal
 Simplex
 Not segregated
 FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,GAS2,ANO5
 
 moreira_16_ASD_discovery_cases-case1
 aCGH, array SNP, and/or MLPA
 
 Unknown (not maternal)
 Unknown
 
 SLC17A6
 
 nava_13_ASD_discovery_cases-Fam587Proband10722
 
 
 Paternal, absent in affected brother
 Multiplex
 Not segregated
 LUZP2
 
 nord_11_ASD_discovery_cases-312-1
 
 
 Paternal
 
 
 0 genes
 
 pinto_10_ASD_discovery_cases-case5059_4
 Agilent1M
 
 paternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5128_4
 Agilent1M
 
 paternal
 NA
 NA
 LUZP2
 
 pinto_10_ASD_discovery_cases-case5511_3
 Agilent1M
 
 maternal
 NA
 NA
 ANO5
 
 prasad_12_ASD_discovery_cases-case114084L
 
 
 Unknown
 Unknown
 Unknown
 LUZP2
 
 prasad_12_ASD_discovery_cases-case117388L
 
 
 Unknown
 Unknown
 Unknown
 ANO5
 
 prasad_12_ASD_discovery_cases-case122696L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case154266L
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case51673
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case62257L
 
 
 Unknown
 Multiplex
 Unknown
 LUZP2
 
 quintela_17_DD/ID_discovery_cases-caseID_420
 
 
 Unknown
 
 Unknown
 ANO5
 
 sanders_11_ASD_discovery_cases-11010.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11133.p1
 
 
 Paternal
 Simplex (trio)
 NA
 RPL36AP40
 
 sanders_11_ASD_discovery_cases-11212.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RPL36AP40
 
 sanders_11_ASD_discovery_cases-11275.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 LUZP2
 
 sanders_11_ASD_discovery_cases-11437.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11455.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ANO5
 
 sanders_11_ASD_discovery_cases-11841.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11859.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RPL36AP40
 
 sanders_11_ASD_discovery_cases-12011.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 RPL36AP40
 
 sanders_11_ASD_discovery_cases-12130.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12261.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RPL36AP40
 
 sanders_11_ASD_discovery_cases-12437.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LUZP2
 
 sanders_11_ASD_discovery_cases-12510.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 RPL36AP40
 
 sanders_11_ASD_discovery_cases-12518.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12523.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FANCF,RNA5SP338,WIZP1,MIR8054,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,GAS2,ANO5
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 szatmari_07_ASD_discovery_cases-NAAR076-G4-04C37169
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 
 
 szatmari_07_ASD_discovery_cases-NAAR076-G5-04C37170
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 
 
 walker_13_ASD_discovery_cases-case8-14059-1020
 Long-range PCR or qPCR
 
 Unknown
 Simplex
 Unknown
 
 
 walker_13_ASD_discovery_cases-case8-14175-2820
 Long-range PCR or qPCR
 
 Paternal
 Simplex
 Segregated
 
 
 walker_13_ASD_discovery_cases-case8-14208-3350
 Long-range PCR or qPCR
 
 Maternal
 Simplex
 Segregated
 
 
 yin_16_ASD_discovery_cases-case407
 
 
 Unknown
 Unknown
 Unknown
 ANO5
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036010999_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036025278_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB182878_1007875343
 
 
  Unknown
 
 
  ANO5
 
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB476509_1007853948
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB553894_1007850188
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB653776_1007846516
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB943713_1007844029
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB952452_1007843875
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
 
 
  Unknown
 
 
  FANCF,LINC01495,GAS2
 
engchuan_15_ASD_discovery_controls-controlHABC_900966_900966
 
 
  Unknown
 
 
  LUZP2
 
engchuan_15_ASD_discovery_controls-controlHABC_901130_901130
 
 
  Unknown
 
 
 
 
girirajan_13b_ASD_discovery_controls-40005104405
 
 
  Unknown
 
 
  ANO5
 
krumm_13_ASD_discovery_controls-control12523.s1
 
 
  Maternal
  Simplex
 
  FANCF,RNA5SP338,SLC17A6,LINC01495,GAS2,ANO5
 
krumm_15_ASD_discovery_controls-control11458.s1
  Illumina 1M
 
  Maternal
 
 
  LUZP2
 
krumm_15_ASD_discovery_controls-control12523.s1
  Illumina 1MDuo
 
  Maternal
 
 
  FANCF,RNA5SP338,SLC17A6,LINC01495,GAS2,ANO5
 
levy_11_ASD_discovery_controls-12066.s1
 
 
  Maternal
  Simplex
  NA
  FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,GAS2,ANO5
 
nord_11_ASD_discovery_controls-04C28409
 
 
 
 
 
  SVIP
 
poultney_13_ASD_discovery_controls-control04C28080A
 
 
  Unknown
 
 
  RNA5SP338,GAS2
 
sanders_11_ASD_discovery_controls-11037.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11098.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SVIP,CCDC179,GAS2
 
sanders_11_ASD_discovery_controls-11190.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ANO5
 
sanders_11_ASD_discovery_controls-11458.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL36AP40,LUZP2
 
sanders_11_ASD_discovery_controls-11549.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL36AP40
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RPL36AP40
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LUZP2
 
sanders_11_ASD_discovery_controls-12154.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL36AP40
 
sanders_11_ASD_discovery_controls-12261.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL36AP40
 
sanders_11_ASD_discovery_controls-12300.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12510.s1
 
 
  Both parents
  Simplex (quad)
  NA
  RPL36AP40
 
sanders_11_ASD_discovery_controls-12523.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FANCF,RNA5SP338,WIZP1,MIR8054,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,GAS2,ANO5
 
sanders_11_ASD_discovery_controls-12701.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12785.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12799.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13077.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13183.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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