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11q23.3CNV Type: Deletion-Duplication


Largest CNV size: 90063 bp

Statistics Box:
Number of Reports: 14



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
De novo rates and selection of large copy number variation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 6333
 3
 0
 3
 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
 90062
 0
 2
 2
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 8106
 1
 0
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 86515
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 160002
 1
 0
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 122737
 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
 1609804
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 13281
 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
 
 
 87001
 0
 2
 2
 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)
 79544
 0
 1
 1
 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
 88090
 1
 2
 3
 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
 14971
 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
 118586
 1
 0
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 266000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 1629
 1
 0
 1
 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
 236339
 1
 4
 5
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 59621
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 13281
 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
 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.
 
 13495
 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)
 0
 0
 0
 0
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 88090
 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.
 
 43138
 6
 1
 7
 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
 118586
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 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_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 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
 qPCR
 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
 
 
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  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
 
 
  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
 
 
  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
 
 
  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
  brandler_18_ASD_replication_cases-case2-1160-003
 N/A
 F
 ASD
 Case from MSSNG cohort
 
 118622627
 118624010
  1384
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-case5-0125-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 120485867
 120486100
  234
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseSSC03294
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 116897246
 116903578
  6333
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1248_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 117389359
 117479422
  90064
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14289_4100
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 117392387
 117479422
  87036
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263739
 N/A
 M
 Developmental delay
 Global developmental delay; Abnormal facial shape; Mild short stature; Abnormality of the cardiac septa
 
 118484067
 118492173
  8107
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU067703
 
 
 Autism
 
 
 116768313
 116854827
  86515
 Unknown
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case44
 4 yrs.
 NA
 Intellectual disability
 Speech delay, neurobehavioral disorder
 Intellectual disability
 120220345
 120380347
  160003
 GRCh38
 Deletion
 No
  itsara_10_ASD_discovery_cases-HI1097
 NA
 NA
 Autism
 NA
 NA
 117109195
 117231932
  122738
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004984
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 116436425
 118046231
  1609807
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12426.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 117279907
 117293188
  13282
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-MM0112-005
 NA
 M
 ASD
 NA
 NA
 117414054
 117479422
  65369
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-MM0240-003
 NA
 F
 ASD
 NA
 NA
 118076075
 118163075
  87001
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1248_5
 NA
 M
 ASD
 NA
 NA
 117389359
 117479422
  90064
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5119_3
 NA
 F
 Autism
 Language delay, no epilepsy; coarse facial features, high hairline, frontal bossing, hypertelorism, clinodactyly
 Average nonverbal IQ
 117452643
 117537452
  84810
 Unknown
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case01HI2010A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU067705; NDAR ID NDAR_INVUL990PCP)
 
 117392494
 117472038
  79545
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case115816L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 118635773
 118644981
  9209
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case46736
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 116767395
 116855484
  88090
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case96280L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 118439206
 118458629
  19424
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 116799112
 116814051
  14940
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12113.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
 120209176
 120212370
  3195
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12194.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
 119376186
 119391157
  14972
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case418
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 120368253
 120486838
  118586
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-case2-1294-004
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: Nonverbal Learning Disability
 
 118485285
 118751291
  266007
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_controls-controlSSC12183
  N/A
  M
  Control
  Control from SSC_phase1 cohort
 
  118623947
  118625577
  1631
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-controlB322144_1007854009
  N/A
  N/A
  Control
  No previous psychiatric history
 
  118502856
  118559804
  56949
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB752003_1007876006
  N/A
  N/A
  Control
  No previous psychiatric history
 
  116977613
  117045026
  67414
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900533_900533
  N/A
  N/A
  Control
  No previous psychiatric history
 
  117624230
  117860569
  236340
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900841_900841
  N/A
  N/A
  Control
  No previous psychiatric history
 
  119848357
  119983805
  135449
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902614_902614
  N/A
  N/A
  Control
  No previous psychiatric history
 
  117630357
  117860569
  230213
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split2149
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  120568392
  120628012
  59621
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control12426.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  117279907
  117293188
  13282
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C28495
 
 
  Control
 
 
  117330880
  117344374
  13495
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11483.s1
  12.7
  M
  Control (matched sibling)
  NA
  NA
  116525896
  116537106
  11211
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11731.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  118840360
  118850289
  9930
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11879.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  120209176
  120212370
  3195
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12201.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  116799112
  116800022
  911
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12339.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  119376186
  119411504
  35319
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12426.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  117265354
  117297848
  32495
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12449.s1
  5.3
  M
  Control (matched sibling)
  NA
  NA
  119376186
  119419324
  43139
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-case2-1160-003
 No validation step reported
 
 Paternal
 
 
 PHLDB1
 
 brandler_18_ASD_replication_cases-case5-0125-003
 No validation step reported
 
 Paternal
 
 
 ARHGEF12
 
 brandler_18_ASD_replication_cases-caseSSC03294
 No validation step reported
 
 Maternal
 
 
 SIK3
 
 engchuan_15_ASD_discovery_cases-case1248_5
 
 
 Unknown
 
 
 CEP164,DSCAML1
 
 engchuan_15_ASD_discovery_cases-case14289_4100
 
 
 Unknown
 
 
 CEP164,DSCAML1
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263739
 
 
 De novo
 Simplex
 Segregated
 KMT2A
 
 gai_11_ASD_replication_cases-AU067703
 
 
 Inherited
 
 
 CEP164, DSCAML1
 
 iourov_12_ASD/ID/EP_discovery_cases-case44
 
 
 Unknown
 Unknown
 Unknown
 TMEM136,OAF,POU2F3,ARHGEF12
 
 itsara_10_ASD_discovery_cases-HI1097
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 TAGLN,PAFAH1B2,SIDT2,PCSK7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004984
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 LINC02151,APOA5,APOA4,APOC3,APOA1,RNY4P6,TAGLN,PRR13P3,BUD13,APOA1-AS,PAFAH1B2,SIDT2,PCSK7,RNF214,BACE1-AS,CEP164,FXYD2,FXYD6,TMPRSS13,IL10RA,SMIM35,ZPR1,SIK3,BACE1,FXYD6-FXYD2,DSCAML1
 
 krumm_15_ASD_discovery_cases-case12426.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RNF214,BACE1-AS,BACE1
 
 marshall_08_ASD_discovery_cases-MM0112-005
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 DSCAML1
 
 marshall_08_ASD_discovery_cases-MM0240-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 SCN2B,SMIM35,SCN4B,TMPRSS4
 
 pinto_10_ASD_discovery_cases-case1248_5
 Illumina550;Affy5.0
 
 Unknown (potential de novo)
 NA
 NA
 CEP164,DSCAML1
 
 pinto_10_ASD_discovery_cases-case5119_3
 qPCR
 
 paternal
 Multiplex
 Unknown
 SCN2B, SCN4B, TMPRSS4
 
 poultney_13_ASD_discovery_cases-case01HI2010A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CEP164,DSCAML1
 
 prasad_12_ASD_discovery_cases-case115816L
 
 
 Unknown
 Unknown
 Unknown
 CBL
 
 prasad_12_ASD_discovery_cases-case46736
 
 
 Unknown
 Unknown
 Unknown
 CEP164,DSCAML1
 
 prasad_12_ASD_discovery_cases-case96280L
 qPCR
 
 Paternal
 Unknown
 Unknown
 VPS11
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12113.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OAF
 
 sanders_11_ASD_discovery_cases-12194.p1
 
 
 Unknown
 Simplex (trio)
 NA
 USP2,USP2-AS1
 
 yin_16_ASD_discovery_cases-case418
 
 
 Unknown
 Unknown
 Unknown
 ARHGEF12
 
 yuen_17_ASD_discovery_cases-case2-1294-004
 Affymetrix CytoScan HD
 
 Maternal
 Multiplex
 Not segregated
 TTC36,RPL5P30,RNU6-1157P,MIR6716,TREHP1,RNU6-376P,TMEM25,IFT46,ARCN1,TREH,PHLDB1,DDX6,KMT2A
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC12183
  PCR or SNP data validation
 
  Maternal
 
 
  PHLDB1
 
engchuan_15_ASD_discovery_controls-controlB322144_1007854009
 
 
  Unknown
 
 
  TTC36,TMEM25,IFT46,KMT2A
 
engchuan_15_ASD_discovery_controls-controlB752003_1007876006
 
 
  Unknown
 
 
  RNY4P6,SIK3
 
engchuan_15_ASD_discovery_controls-controlHABC_900533_900533
 
 
  Unknown
 
 
  FXYD2,FXYD6,FXYD6-FXYD2,DSCAML1
 
engchuan_15_ASD_discovery_controls-controlHABC_900841_900841
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902614_902614
 
 
  Unknown
 
 
  FXYD2,FXYD6,FXYD6-FXYD2,DSCAML1
 
kanduri_15_ASD_discovery_controls-control_split2149
 
 
  Unknown
 
 
  GRIK4 (intronic)
 
krumm_15_ASD_discovery_controls-control12426.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RNF214,BACE1-AS,BACE1
 
nord_11_ASD_discovery_controls-04C28495
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11483.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11731.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11879.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OAF
 
sanders_11_ASD_discovery_controls-12201.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12339.s1
 
 
  Unknown
  Simplex (quad)
  NA
  USP2,USP2-AS1
 
sanders_11_ASD_discovery_controls-12426.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNF214,BACE1-AS,BACE1
 
sanders_11_ASD_discovery_controls-12449.s1
 
 
  Maternal
  Simplex (quad)
  NA
  USP2,THY1,USP2-AS1
 

No Animal Model Data Available
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