HELP     Sign In

19q13.43CNV Type: Deletion-Duplication


Largest CNV size: 734100 bp

Statistics Box:
Number of Reports: 20



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

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-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
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
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.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
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.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egle_16_DD/ID_discovery_cases
 Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
 66
 All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
 N/A
 N/A
 1300000
 0
 1
 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
 222032
 0
 3
 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
 22626
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 278000
 0
 2
 2
 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
 2217993
 0
 2
 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
 97800
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 381073
 2
 5
 7
 leblond_19_ASD_discovery_cases
 Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
 36
 All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
 N/A
 77.78% Male
 16490
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 36782
 0
 1
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 734100
 2
 1
 3
 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
 20000
 0
 1
 1
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 100628
 1
 1
 2
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 222033
 0
 1
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 387834
 2
 11
 13
 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
 843290
 5
 3
 8
 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
 1079962
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 217476
 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
 62829
 8
 4
 12
 soueid_16_ASD_discovery_cases
 Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
 41
 All cases fulfilled DSM-V criteria for autism
 Range, 3-18 yrs.
 92.68% Male
 207000
 0
 1
 1
 soueid_16_DD/ID_discovery_cases
 Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 35
 Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
 N/A
 N/A
 0
 0
 0
 0
 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
 651622
 1
 3
 4

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egle_16_DD/ID_discovery_controls
 CNVs from the Database of Genomic Variants (DGV)
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 110223
 0
 2
 2
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 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
 7434
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 54826
 2
 2
 4
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 36782
 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
 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)
 256171
 0
 1
 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)
 843290
 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.
 
 12838
 6
 3
 9
 soueid_16_ASD_discovery_controls
 Control cohort of normal participants
 37
 Control
 N/A
 51.35% Male
 0
 0
 0
 0
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 651622
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 egle_16_DD/ID_discovery_cases
  Lithuania
 aCGH
  Agilent 60K, Agilent 105K, or Agilent 1M
 ADM-2
 Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
 FISH or RT-PCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 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
 aCGH (NimbleGen 135K array)
 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_19_ASD_discovery_cases
  Faroe Islands
 Solid phase hybridization, WES
  Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
 PennCNV, QuantiSNP
 XHMM
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 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
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 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)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 soueid_16_ASD_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 soueid_16_DD/ID_discovery_cases
  Lebanon
 Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
 Affymetrix ChAS
 None
 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
  egle_16_DD/ID_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  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
 
 
  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
 
 
  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
 
 
  soueid_16_ASD_discovery_controls
  Lebanon
  Array SNP
  Affymetrix 2.7M, Affymetrix CytoScan
 
  Affymetrix ChAS
  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
  egle_16_DD/ID_discovery_cases-case3_1
 35 yrs.
 F
 Intellectual disability
 Microcephaly, obesity, mandibular prognathia, synophrys, diabetes mellitus
 Intellectual disability
 57213509
 58518684
  1305176
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case1956_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57365317
 57558872
  193556
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2232_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 58098076
 58162167
  64092
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5241_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 58280350
 58502381
  222032
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case574-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 58279847
 58302473
  22627
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-12716.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
 58092369
 58167774
  75406
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-13641.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
 56876820
 57146820
  270001
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002563
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 57674103
 57871262
  197160
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004818
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 56363208
 58581203
  2217996
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12716.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12716. SRS score of 88.
 Full-scale IQ (FSIQ) score of 112.
 58127877
 58140746
  12870
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13815.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13815. SRS score of 82.
 Full-scale IQ (FSIQ) score of 51.
 57323681
 57421481
  97801
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11141.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 58548708
 58570529
  21822
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12921.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 56774687
 56782121
  7435
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13394.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 57193874
 57248700
  54827
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13537.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 55923913
 55987913
  64001
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13641.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 57128675
 57160797
  32123
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13641.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 57546974
 57928047
  381074
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13815.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 57323681
 57421481
  97801
 GRCh38
 Deletion
 Yes
  leblond_19_ASD_discovery_cases-casePN400121
 N/A
 F
 ASD
 Diagnosis of childhood autism (ADOS=22). Birth/neonatal history: born prematurely (birth weight 1500 g). Additional medical history: high blood pressure medication.
 Severe intellectual disability
 58246302
 58262787
  16486
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-11191.p1
 NA
 M
 ASD
 NA
 NA
 56204863
 56241644
  36782
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-NA0110-000
 NA
 M
 ASD
 NA
 NA
 57847176
 57990620
  143445
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0047-003
 NA
 F
 ASD
 NA
 NA
 56707620
 57441720
  734101
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0232-003
 NA
 M
 ASD
 NA
 NA
 58279822
 58567921
  288100
 GRCh38
 Duplication
 Yes
  nava_13_ASD_discovery_cases-Fam755Proband8403
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 57622904
 57642891
  19988
 GRCh38
 Duplication
 No
  o'roak_12_ASD_discovery_cases-case11753.p1
 NA
 M
 ASD/Autism
 No additional clinical info available.
 High IQ. Non verbal IQ, 100
 57477685
 57507812
  30128
 GRCh38
 Duplication
 Yes
  o'roak_12_ASD_discovery_cases-case13815.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo ITGB3 missense mutation. No additional clinical info available.
 Low IQ. Non verbal IQ, 56
 57320853
 57421481
  100629
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5241_3
 NA
 M
 Autism
 Average language (47%ile), no language delay, no epilepsy, right 2-3 toe syndactyly, right ear malformation
 Low nonverbal IQ (9%ile)
 58280350
 58502381
  222032
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case04HI2957A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
 
 57284549
 57475788
  191240
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2957A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
 
 57556229
 57944062
  387834
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 57284549
 57475788
  191240
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 57686479
 57944062
  257584
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI3174A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
 
 57556229
 57642183
  85955
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3851A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
 
 55952536
 55962239
  9704
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case98HI0027A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU028503; NDAR ID NDAR_INVXL501PFH)
 
 57685260
 57942649
  257390
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0705A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017905; NDAR ID N/A)
 
 58060001
 58063543
  3543
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI0807A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
 
 58545423
 58557159
  11737
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0922A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
 
 57284549
 57475788
  191240
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0922A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
 
 57537202
 57813422
  276221
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0933A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
 
 57284549
 57475788
  191240
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0933A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
 
 57556229
 57944062
  387834
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case115744L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 62976604
 62991050
  14447
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case117482L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 62653075
 62660845
  7771
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47172L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 62692283
 62702641
  10359
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47173L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 61822868
 62666157
  843290
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case58449
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 63655693
 63669351
  13659
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case59838
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 63482928
 63704494
  221567
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case72165
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 63045912
 63194203
  148292
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case88810
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 63694262
 63718371
  24110
 Unknown
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_598
 1 yr.
 F
 Developmental delay
 Additional clinical information N/A
 Global developmental delay
 56064927
 57144886
  1079960
 GRCh38
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case20259
 NA
 NA
 ASD
 NA
 NA
 62794103
 63011579
  217476
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11011.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
 56962143
 56966114
  3972
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11396.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
 57477686
 57487814
  10129
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11498.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
 57492212
 57500053
  7842
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11555.p1
 9.1
 F
 Aspergers
 NA
 Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
 56962143
 56966114
  3972
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11597.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
 57477686
 57487814
  10129
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11753.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
 57477686
 57487814
  10129
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11780.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
 56962143
 56966114
  3972
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12372.p1
 15.7
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80
 56231306
 56241523
  10218
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 56231306
 56242423
  11118
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12921.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
 56719634
 56782463
  62830
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 56962143
 56966114
  3972
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13153.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
 56962143
 56966114
  3972
 GRCh38
 Deletion
 No
  soueid_16_ASD_discovery_cases-caseLAS7
 N/A
 M
 Autism
 Case fulfilled DSM-V criteria for autism; no other information available
 
 55798955
 56005981
  207027
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case576
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 56381499
 57033121
  651623
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case577
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 57133243
 57595943
  462701
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case578
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 57366153
 57419660
  53508
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case579
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 57994690
 58586475
  591786
 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-controlB926936_1007854182
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57762330
  57872553
  110224
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900039_900039
  N/A
  N/A
  Control
  No previous psychiatric history
 
  58336879
  58416942
  80064
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control13162.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13162. SRS score of 36.
 
  56774687
  56782121
  7435
  GRCh38
  Duplication
  No (False Positive)
  krumm_15_ASD_discovery_controls-control11200.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  55952537
  55962237
  9701
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11391.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  58545424
  58569603
  24180
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13010.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  58548485
  58548910
  426
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13394.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  57193874
  57248700
  54827
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11191.s1
  NA
  M
  Control
  NA
  NA
  56204863
  56241644
  36782
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C43347
  N/A
  F
  Control
  NIMH Control (NIMH ID 27459)
 
  57686479
  57942649
  256171
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11396.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  57477686
  57487814
  10129
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  57477686
  57487814
  10129
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11924.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  56962143
  56966114
  3972
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12056.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  56231306
  56242423
  11118
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12313.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  56962143
  56966114
  3972
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12372.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  57613597
  57626435
  12839
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12445.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  57477686
  57487814
  10129
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12838.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  57613597
  57623981
  10385
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  56691556
  56703805
  12250
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 egle_16_DD/ID_discovery_cases-case3_1
 FISH or RT-PCR
 
 Paternal
 
 
 AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,LETM1P2,HNRNPDLP4,RN7SL526P,RPS15AP36,MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,C19orf18,ZNF606,VN2R19P,ZSCAN1,ZSCAN18,ZNF329,ZNF544,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,ZNF460-AS1,ZNF549,ZNF550,ZNF586,ZNF418,ZNF135,ZNF274,ZSCAN22,ZSCAN4
 
 engchuan_15_ASD_discovery_cases-case1956_302
 
 
 Unknown
 
 
 TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF549,ZNF550
 
 engchuan_15_ASD_discovery_cases-case2232_1
 
 
 Unknown
 
 
 ZSCAN18,ZNF329
 
 engchuan_15_ASD_discovery_cases-case5241_3
 
 
 Unknown
 
 
 MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZSCAN22
 
 gazzellone_14_ASD_discovery_cases-case574-3
 
 
 Unknown
 Unknown
 Unknown
 ZNF8
 
 girirajan_13a_ASD_discovery_cases-12716.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 ZSCAN18,ZNF329
 
 girirajan_13a_ASD_discovery_cases-13641.p1
 
 
 Unknown
 Simplex
 Unknown
 ZIM3,RPL7AP69,USP29
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002563
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ZNF552,FKBP1AP1,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF586,ZSCAN4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004818
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SLC25A36P1,SIGLEC31P,SMIM17,ZNF835,MIMT1,ZIM3,AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,LETM1P2,HNRNPDLP4,RN7SL526P,RPS15AP36,MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,RN7SL525P,TRIM28,MIR6807,CHMP2A,ZNF542P,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZNF471,ZFP28,ZNF470,ZIM2-AS1,ZIM2,PEG3,RPL7AP69,USP29,DUXA,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,C19orf18,ZNF606,VN2R19P,ZSCAN1,ZSCAN18,ZNF329,ZNF544,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,UBE2M,MZF1-AS1,MZF1,ZSCAN5A,ZNF667-AS1,OR5AH1P,ZNF460-AS1,ZNF549,ZNF550,ZNF586,ZNF418,ZNF135,ZNF274,ZSCAN22,CENPBD1P1,ZNF71,ZSCAN4
 
 krumm_13_ASD_discovery_cases-case12716.p1
 
 
 Paternal
 Simplex
 Not segregated
 ZNF329
 
 krumm_13_ASD_discovery_cases-case13815.p1
 
 
 Maternal
 Simplex
 Segregated
 ZNF304,TRAPPC2B,ZNF17,ZNF543,ZNF547,ZNF548
 
 krumm_15_ASD_discovery_cases-case11141.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 TRIM28,MIR6807,CHMP2A,UBE2M,MZF1-AS1,MZF1
 
 krumm_15_ASD_discovery_cases-case12921.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 ZIM2-AS1,ZIM2
 
 krumm_15_ASD_discovery_cases-case13394.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AURKC,ZNF264,ZNF805
 
 krumm_15_ASD_discovery_cases-case13537.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 NLRP13,NLRP8
 
 krumm_15_ASD_discovery_cases-case13641.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 ZIM3,USP29,DUXA
 
 krumm_15_ASD_discovery_cases-case13641.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TPRG1LP1,ZNF552,FKBP1AP1,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF549,ZNF550,ZNF586,ZNF418,ZSCAN4
 
 krumm_15_ASD_discovery_cases-case13815.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 ZNF304,TRAPPC2B,ZNF17,ZNF543,ZNF547,ZNF548
 
 leblond_19_ASD_discovery_cases-casePN400121
 
 
 Unknown
 Simplex
 Unknown
 ZNF544
 
 levy_11_ASD_discovery_cases-11191.p1
 
 
 Maternal
 Simplex
 Not segregated
 ZSCAN5C,ZSCAN5A
 
 marshall_08_ASD_discovery_cases-NA0110-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 ZNF256,ZNF814,ZNF587,ZNF417,C19orf18,ZNF606,ZNF418
 
 marshall_08_ASD_discovery_cases-SK0047-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 MIMT1,ZIM3,AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,ZIM2-AS1,ZIM2,PEG3,RPL7AP69,USP29,DUXA,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,OR5AH1P,ZNF460-AS1
 
 marshall_08_ASD_discovery_cases-SK0232-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,RN7SL525P,TRIM28,MIR6807,CHMP2A,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,UBE2M,MZF1-AS1,MZF1,ZSCAN22
 
 nava_13_ASD_discovery_cases-Fam755Proband8403
 
 
 Paternal
 Simplex
 Unknown
 ZNF134,ZNF211
 
 o'roak_12_ASD_discovery_cases-case11753.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 ZNF419,ZNF773
 
 o'roak_12_ASD_discovery_cases-case13815.p1
 aCGH, Sanger sequencing
 
 Maternal
 Simplex (quad)
 Unknown
 ZNF304,TRAPPC2B,ZNF17,ZNF543,ZNF547,ZNF548
 
 pinto_10_ASD_discovery_cases-case5241_3
 Agilent1M
 
 paternal
 Multiplex
 NA
 MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZSCAN22
 
 poultney_13_ASD_discovery_cases-case04HI2957A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772
 
 poultney_13_ASD_discovery_cases-case04HI2957A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF549,ZNF550,ZNF586,ZNF418,ZSCAN4
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF552,FKBP1AP1,ZNF256,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF586,ZNF418
 
 poultney_13_ASD_discovery_cases-case04HI3174A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF549,ZNF550
 
 poultney_13_ASD_discovery_cases-case05HI3851A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 NLRP8
 
 poultney_13_ASD_discovery_cases-case98HI0027A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF552,FKBP1AP1,ZNF256,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF586,ZNF418
 
 poultney_13_ASD_discovery_cases-case99HI0705A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF135
 
 poultney_13_ASD_discovery_cases-case99HI0807A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TRIM28,MIR6807,CHMP2A,UBE2M
 
 poultney_13_ASD_discovery_cases-case99HI0922A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772
 
 poultney_13_ASD_discovery_cases-case99HI0922A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TPRG1LP1,ZNF552,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF549,ZNF550,ZNF586,ZSCAN4
 
 poultney_13_ASD_discovery_cases-case99HI0933A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772
 
 poultney_13_ASD_discovery_cases-case99HI0933A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF549,ZNF550,ZNF586,ZNF418,ZSCAN4
 
 prasad_12_ASD_discovery_cases-case115744L
 
 
 Unknown
 Unknown
 Unknown
 ZNF586
 
 prasad_12_ASD_discovery_cases-case117482L
 
 
 Unknown
 Unknown
 Unknown
 VN1R1
 
 prasad_12_ASD_discovery_cases-case47172L
 
 
 Unknown
 Unknown
 Unknown
 ZNF419
 
 prasad_12_ASD_discovery_cases-case47173L
 
 
 Unknown
 Unknown
 Unknown
 TRAPPC2P1,ZNF835,USP29,ZNF17,ZNF71,ZNF749,ZNF264,LOC147670,VN1R1,AURKC,PEG3-AS1,ZIM2,ZIM3,ZNF304,ZNF805,ZNF547,ZNF543,MIMT1,ZNF460,DUXA,ZNF548,PEG3
 
 prasad_12_ASD_discovery_cases-case58449
 
 
 Unknown
 Unknown
 Unknown
 ZNF324B
 
 prasad_12_ASD_discovery_cases-case59838
 
 
 Unknown
 Unknown
 Unknown
 ZNF324B,ZNF446,LOC646862,ZNF324,ZNF8,ZNF497,RPS5,ZNF584,ZNF837,SLC27A5,ZNF132,A1BG-AS1,ZSCAN22,A1BG
 
 prasad_12_ASD_discovery_cases-case72165
 
 
 Unknown
 Unknown
 Unknown
 LOC100293516,ZNF606,C19orf18,ZNF256,ZNF587,ZNF418,ZNF417,ZNF814
 
 prasad_12_ASD_discovery_cases-case88810
 
 
 Unknown
 Unknown
 Unknown
 SLC27A5,ZBTB45
 
 quintela_17_DD/ID_discovery_cases-caseID_598
 
 
 Unknown
 
 Unknown
 LINC01864,ZSCAN5C,VN2R17P,SLC25A36P1,SIGLEC31P,SMIM17,ZNF835,MIMT1,ZIM3,ZNF444,GALP,ZSCAN5B,ZSCAN5DP,EDDM13,ZNF542P,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZNF471,ZFP28,ZNF470,ZIM2-AS1,ZIM2,PEG3,RPL7AP69,USP29,ZNF787,ZSCAN5A,ZNF667-AS1,OR5AH1P,ZNF71
 
 rosenfeld_10_ASD_discovery_cases-case20259
 FISH
 
 Paternal
 Unknown
 Unknown
 ZIK1,ZNF530,ZNF134,ZNF211,ZSCAN4,ZNF551,ZNF154,ZNF671,ZNF776,ZNF586,ZNF552
 
 sanders_11_ASD_discovery_cases-11011.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11396.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF419
 
 sanders_11_ASD_discovery_cases-11498.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ZNF419,ZNF773
 
 sanders_11_ASD_discovery_cases-11555.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11597.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 ZNF419
 
 sanders_11_ASD_discovery_cases-11753.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF419
 
 sanders_11_ASD_discovery_cases-11780.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12372.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZSCAN5A
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZSCAN5A
 
 sanders_11_ASD_discovery_cases-12921.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZIM2-AS1,ZIM2,OR5AH1P
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13153.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 soueid_16_ASD_discovery_cases-caseLAS7
 
 
 Maternal
 Simplex
 
 NLRP13,NLRP5,NLRP11,NLRP4,NLRP8
 
 yin_16_ASD_discovery_cases-case576
 
 
 Unknown
 Unknown
 Unknown
 SLC25A36P1,SIGLEC31P,SMIM17,ZNF835,MIMT1,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZNF471,ZFP28,ZNF470,ZIM2-AS1,ZIM2,PEG3,ZNF667-AS1,OR5AH1P,ZNF71
 
 yin_16_ASD_discovery_cases-case577
 
 
 Unknown
 Unknown
 Unknown
 ZIM3,AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,DUXA,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF416,ZIK1,ZNF460-AS1,ZNF549,ZNF550
 
 yin_16_ASD_discovery_cases-case578
 
 
 Unknown
 Unknown
 Unknown
 ZNF17,ZNF547,ZNF548
 
 yin_16_ASD_discovery_cases-case579
 
 
 Unknown
 Unknown
 Unknown
 LETM1P2,HNRNPDLP4,RN7SL526P,RPS15AP36,MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,RN7SL525P,TRIM28,MIR6807,CHMP2A,ZNF606,VN2R19P,ZSCAN1,ZSCAN18,ZNF329,ZNF544,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,UBE2M,MZF1-AS1,MZF1,ZNF135,ZNF274,ZSCAN22,CENPBD1P1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB926936_1007854182
 
 
  Unknown
 
 
  ZNF552,FKBP1AP1,ZNF587B,ZNF814,ZNF587,ZNF586
 
engchuan_15_ASD_discovery_controls-controlHABC_900039_900039
 
 
  Unknown
 
 
  A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF497,ZNF837,RPS5,ZNF584,ZSCAN22
 
krumm_13_ASD_discovery_controls-control13162.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  ZIM2-AS1,ZIM2
 
krumm_15_ASD_discovery_controls-control11200.s1
  Illumina 1M
 
  Maternal
 
 
  NLRP8
 
krumm_15_ASD_discovery_controls-control11391.s1
  Illumina 1M
 
  Paternal
 
 
  TRIM28,MIR6807,CHMP2A,UBE2M,MZF1-AS1,MZF1
 
krumm_15_ASD_discovery_controls-control13010.s1
  Illumina 1MDuo
 
  Paternal
 
 
  TRIM28
 
krumm_15_ASD_discovery_controls-control13394.s1
  1M-Duov3
 
  Maternal
 
 
  AURKC,ZNF264,ZNF805
 
levy_11_ASD_discovery_controls-11191.s1
 
 
  Maternal
  Simplex
  NA
  ZSCAN5C,ZSCAN5A
 
poultney_13_ASD_discovery_controls-control05C43347
 
 
  Unknown
 
 
  ZNF552,FKBP1AP1,ZNF256,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF586,ZNF418
 
sanders_11_ASD_discovery_controls-11396.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF419
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF419
 
sanders_11_ASD_discovery_controls-11924.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12056.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZSCAN5A
 
sanders_11_ASD_discovery_controls-12313.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12372.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZNF134
 
sanders_11_ASD_discovery_controls-12445.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ZNF419
 
sanders_11_ASD_discovery_controls-12838.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ZNF134
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR5AH1P
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.