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11p15.5CNV Type: Deletion-Duplication


Largest CNV size: 78146 bp

Statistics Box:
Number of Reports: 20



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
De novo rates and selection of large copy number variation.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 107
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 638271
 0
 1
 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.
 
 
 384530
 1
 0
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 606120
 0
 2
 2
 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
 181031
 1
 1
 2
 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)
 
 
 67281
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1226983
 2
 2
 4
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 8546
 0
 1
 1
 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
 55958
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 96515
 1
 4
 5
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 22000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 52141
 0
 1
 1
 lintas_17_ASD_discovery_cases
 ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
 41
 Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
 N/A
 87.80% Male
 130821
 0
 1
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 55000
 0
 1
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 638272
 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
 22905
 1
 0
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 34814
 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
 78146
 8
 2
 10
 wenger_16_22q11DS_discovery_cases
 Children with 22q11.21 deletion syndrome screened for "second hit" CNVs affecting one or more genes involving in mGluR signlaing
 75
 All 75 cases diagnosed with 22q11.2 deletion syndrome (22q11DS); 25 of these cases also present with ASD
 N/A
 N/A
 249000
 2
 0
 2
 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
 49803
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 225435
 1
 11
 12
 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.
 
 
 384530
 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
 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
 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
 947598
 1
 5
 6
 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
 55958
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 96515
 0
 3
 3
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 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)
 22905
 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.
 
 57679
 4
 1
 5
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
 N/A
 N/A
 68935
 0
 2
 2
 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
 49803
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 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
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 qPCR
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 lintas_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome CGH SurePrint G3 4x180K
 ADM-2
 Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
 Validation by visual inspection, RT-PCR, or PCR
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by 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
 
 
 wenger_16_22q11DS_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina HumanHap 550, or Illumina Human610-Quad v1.0
 PennCNV
 
 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
  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
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  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
 
 
  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
 
 
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  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
  celestino-soper_11_ASD_discovery_cases-11555
 NA
 F
 ASD
 NA
 NA
 370223
 370330
  108
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16072_1571036001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 391049
 1025480
  634432
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si302
 16
 M
 Autism
 ADOS score: 9. Vineland composite score: 47.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 71; Non-verbal IQ, 82.
 862273
 1258997
  396725
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-48904101700
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 1830720
 2436840
  606121
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-9505103679
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 1864753
 2470438
  605686
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case28
 2 yrs. 2 mos.
 M
 Intellectual disability
 Microcephaly, seizures, hypertelorism, single transverse palmar crease, syndactyly, congenital heart defect, Hirschsprung disease
 Intellectual disability, severe developmental and cognitive delay
 2240338
 2409567
  169230
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case50
 4 yrs.
 F
 Developmental delay/intellectual disability and autism
 Autism, Rett syndrome-like phenotype
 Developmental delay/intellectual disability
 2603436
 2784467
  181032
 GRCh38
 Deletion
 No
  itsara_10_ASD_discovery_cases-HI3469
 NA
 NA
 Autism
 NA
 NA
 589564
 656845
  67282
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000166
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196966
 244236
  47271
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004054
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 758848
 1998025
  1239178
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004133
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1923685
 2003319
  79635
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004874
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 196966
 251588
  54623
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1491
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 2066031
 2074576
  8546
 Unknown
 Duplication
 No
  krumm_13_ASD_discovery_cases-case11766.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11766. SRS score of 57.
 Full-scale IQ (FSIQ) score of 104.
 244040
 244469
  430
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case11810.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11810. SRS score of 71.
 Full-scale IQ (FSIQ) score of 84.
 193099
 249057
  55959
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11215.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 193099
 250865
  57767
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11390.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 238997
 248855
  9859
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11810.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 197560
 249057
  51498
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13997.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 1288623
 1295796
  7174
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14492.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 2299455
 2395970
  96516
 GRCh38
 Duplication
 Yes
  lesca_12_EP_discovery_cases-caseEC73
 NA
 M
 Epilepsy
 Phenotype: s-CSWSS. Seizure Characteristics: Nocturnal. Autistic features: No. ADHD features: Yes. Other features: Cortical and subcortical cerebral atrophy. Ichtyosis..
 Initial cognitive development: Delayed. Cognitive regression: Yes.
 1447761
 1469915
  22155
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11215.p1
 NA
 M
 ASD
 NA
 NA
 197725
 249865
  52141
 GRCh38
 Duplication
 No
  lintas_17_ASD_discovery_cases-case1.2
 10 yrs.
 M
 Autism
 ASD, verbal
 
 766573
 897393
  130821
 GRCh38
 Duplication
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown12
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 196000
 251000
  55001
 GRCh38
 Duplication
 No
  pinto_14_ASD_discovery_cases2-case16072_1571036001
 N/A
 M
 ASD
 Autism (autism on ADI-R and ADOS), language delay (first words 42 mo, first phrases 48 mo), verbal; possible lead poisoning at age 2 from house paint (family moved afterwards); no seizures. Family history: both parents unaffected; unaffected sibling not tested.
 Below-average IQ (WISC-III at 30 y: VIQ 73, PIQ 87, FSIQ 78)
 391049
 1025480
  634432
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case122692L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 2020404
 2043308
  22905
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 409815
 444628
  34814
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11215.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 114; verbal IQ, 80
 174172
 252318
  78147
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11491.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
 2153244
 2202130
  48887
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11810.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
 205935
 249834
  43900
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11918.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
 2155622
 2158083
  2462
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12007.p1
 8.7
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
 2011014
 2036417
  25404
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12019.p1
 9.1
 M
 ASD
 NA
 Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
 2011014
 2036417
  25404
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 2011014
 2036417
  25404
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12558.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
 2375436
 2404870
  29435
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12597.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
 1715434
 1726427
  10994
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12710.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
 2011014
 2036417
  25404
 GRCh38
 Deletion
 No
  wenger_16_22q11DS_discovery_cases-case2
 N/A
 N/A
 22q11.2 deletion syndrome and ASD
 
 
 N/A
 N/A
  145000
 GRCh37
 Deletion
 No
  wenger_16_22q11DS_discovery_cases-case3
 N/A
 N/A
 22q11.2 deletion syndrome and ASD
 
 
 N/A
 N/A
  249000
 GRCh37
 Deletion
 No
  yin_16_ASD_discovery_cases-case397
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 2593496
 2643298
  49803
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036001469_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  345515
  438662
  93148
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036001873_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  345515
  438662
  93148
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB228946_1007854752
  N/A
  N/A
  Control
  No previous psychiatric history
 
  742508
  967943
  225436
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB709920_1007843547
  N/A
  N/A
  Control
  No previous psychiatric history
 
  283928
  358027
  74100
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB771049_1007845881
  N/A
  N/A
  Control
  No previous psychiatric history
 
  438662
  511805
  73144
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
  N/A
  N/A
  Control
  No previous psychiatric history
 
  199256
  276012
  76757
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900992_900992
  N/A
  N/A
  Control
  No previous psychiatric history
 
  174172
  224832
  50661
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901241_901241
  N/A
  N/A
  Control
  No previous psychiatric history
 
  966181
  1025480
  59300
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902523_902523
  N/A
  N/A
  Control
  No previous psychiatric history
 
  1565248
  1718959
  153712
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
  N/A
  N/A
  Control
  No previous psychiatric history
 
  99874
  163208
  63335
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902728_902728
  N/A
  N/A
  Control
  No previous psychiatric history
 
  198510
  254256
  55747
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902728_902728
  N/A
  N/A
  Control
  No previous psychiatric history
 
  297279
  365636
  68358
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1039
  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
 
  2066031
  2087220
  21190
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1268
  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
 
  1126979
  2074576
  947598
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split763
  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
 
  2066031
  2087220
  21190
  Unknown
  Triplication
  No
  kanduri_15_ASD_discovery_controls-control_split773
  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
 
  549119
  558884
  9766
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split870
  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
 
  2066031
  2087220
  21190
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11810.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11810. SRS score of 86.
 
  193099
  249057
  55959
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11810.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  197304
  249057
  51754
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14247.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  193099
  282797
  89699
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14492.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  2299455
  2395970
  96516
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11439.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  1397647
  1408386
  10740
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11571.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  1391618
  1408386
  16769
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11810.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  192155
  249834
  57680
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11986.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  2394062
  2404870
  10809
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12071.s1
  19.6
  M
  Control (matched sibling)
  NA
  NA
  1632215
  1633520
  1306
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family37_Twin_1
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
 
  607183
  617967
  10785
  GRCh38
  Duplication
  No
  stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
  N/A
  N/A
  Control
  Control is from a dizygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
 
  365161
  434095
  68935
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11555
 
 
 Unknown
 Simplex
 NA
 B4GALNT4
 
 engchuan_15_ASD_discovery_cases-case16072_1571036001
 
 
 Unknown
 
 
 RN7SL838P,RNH1,HRAS,RASSF7,MIR210HG,MIR210,IRF7,SCT,CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,RNU6-1025P,SIGIRR,ANO9,PTDSS2,LRRC56,LMNTD2,PHRF1,CDHR5,DRD4,EPS8L2,TMEM80,TALDO1,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1,AP2A2,MUC6,PKP3,DEAF1
 
 girirajan_11_ASD_discovery_cases-Si302
 
 
 Unknown
 Simplex
 
 RNU6-1025P,MIR6744,TSPAN4,CHID1,AP2A2,MUC6,MUC2,MUC5B,MUC5B-AS1,MUC5AC
 
 girirajan_13b_ASD_discovery_cases-48904101700
 
 
 Unknown
 Unknown
 Unknown
 TNNI2,MIR4298,MIR7847,PRR33,MRPL23-AS1,LINC01219,MIR675,MIR483,INS,TH,MIR4686,ASCL2,C11orf21,RNU6-878P,TSSC4,LSP1,LINC01150,TNNT3,H19,IGF2,INS-IGF2,IGF2-AS,TSPAN32,RPL26P30,CD81,TRPM5,SYT8,MRPL23,CD81-AS1
 
 girirajan_13b_ASD_discovery_cases-9505103679
 
 
 Unknown
 Unknown
 Unknown
 MIR7847,PRR33,MRPL23-AS1,LINC01219,MIR675,MIR483,INS,TH,MIR4686,ASCL2,C11orf21,RNU6-878P,TSSC4,LSP1,LINC01150,TNNT3,H19,IGF2,INS-IGF2,IGF2-AS,TSPAN32,RPL26P30,CD81,TRPM5,MRPL23,CD81-AS1,KCNQ1
 
 iourov_12_ASD/ID/EP_discovery_cases-case28
 
 
 Unknown
 Unknown
 Unknown
 ASCL2,C11orf21,RNU6-878P,TSSC4,TSPAN32,RPL26P30,CD81,TRPM5,CD81-AS1
 
 iourov_12_ASD/ID/EP_discovery_cases-case50
 
 
 Unknown
 Unknown
 Unknown
 COX6CP18,KCNQ1,KCNQ1OT1
 
 itsara_10_ASD_discovery_cases-HI3469
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 IRF7,SCT,PHRF1,CDHR5,DRD4,DEAF1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000166
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004054
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,RNU6-1025P,MIR6744,TOLLIP-AS1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-5,FAM99A,FAM99B,KRTAP5-6,RPL36AP39,TNNI2,MIR4298,MIR7847,PRR33,MRPL23-AS1,LINC01219,MIR675,TALDO1,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1,AP2A2,MUC6,MUC2,MUC5B,MUC5B-AS1,TOLLIP,MOB2,DUSP8,KRTAP5-4,IFITM10,CTSD,LSP1,LINC01150,TNNT3,H19,MUC5AC,BRSK2,KRTAP5-AS1,SYT8,MRPL23
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004133
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MRPL23-AS1,LINC01219,MIR675,TNNT3,H19,MRPL23
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004874
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
 kanduri_15_ASD_discovery_cases-case1491
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest genes, H19(dist=46966),IGF2(dist=75771)
 
 krumm_13_ASD_discovery_cases-case11766.p1
 
 
 Maternal
 Simplex
 Segregated
 PSMD13
 
 krumm_13_ASD_discovery_cases-case11810.p1
 
 
 Paternal
 Simplex
 Not segregated
 SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
 krumm_15_ASD_discovery_cases-case11215.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
 krumm_15_ASD_discovery_cases-case11390.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 PSMD13
 
 krumm_15_ASD_discovery_cases-case11810.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
 krumm_15_ASD_discovery_cases-case13997.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TOLLIP
 
 krumm_15_ASD_discovery_cases-case14492.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 C11orf21,RNU6-878P,TSPAN32,RPL26P30,CD81,CD81-AS1
 
 lesca_12_EP_discovery_cases-caseEC73
 qPCR
 
 Maternal
 Unknown
 Unknown
 MOB2,BRSK2
 
 levy_11_ASD_discovery_cases-11215.p1
 
 
 Maternal
 Simplex
 Segregated
 ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
 lintas_17_ASD_discovery_cases-case1.2
 Validation by visual inspection, RT-PCR, or PCR
 
 De novo
 Multiplex
 Not segregated (CNV only observed in 1/3 affected siblings)
 CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown12
 
 
 Maternal
 Unknown
 Unknown
 ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
 pinto_14_ASD_discovery_cases2-case16072_1571036001
 qPCR
 
 Paternal
 Simplex
 Unknown (unaffected sibling not tested)
 RN7SL838P,RNH1,HRAS,RASSF7,MIR210HG,MIR210,IRF7,SCT,CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,RNU6-1025P,SIGIRR,ANO9,PTDSS2,LRRC56,LMNTD2,PHRF1,CDHR5,DRD4,EPS8L2,TMEM80,TALDO1,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1,AP2A2,MUC6,PKP3,DEAF1
 
 prasad_12_ASD_discovery_cases-case122692L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 RN7SL838P,SIGIRR,ANO9
 
 sanders_11_ASD_discovery_cases-11215.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
 sanders_11_ASD_discovery_cases-11491.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 INS,TH,MIR4686,IGF2,INS-IGF2
 
 sanders_11_ASD_discovery_cases-11810.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
 sanders_11_ASD_discovery_cases-11918.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 IGF2,INS-IGF2
 
 sanders_11_ASD_discovery_cases-12007.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12019.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12558.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TSSC4,CD81,TRPM5,CD81-AS1
 
 sanders_11_ASD_discovery_cases-12597.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12710.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 wenger_16_22q11DS_discovery_cases-case2
 
 
 Unknown
 
 
 HRAS
 
 wenger_16_22q11DS_discovery_cases-case3
 
 
 Unknown
 
 
 HRAS
 
 yin_16_ASD_discovery_cases-case397
 
 
 Unknown
 Unknown
 Unknown
 KCNQ1,KCNQ1OT1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036001469_
 
 
  Unknown
 
 
  B4GALNT4,SIGIRR,ANO9,PKP3
 
engchuan_15_ASD_discovery_controls-control110036001873_
 
 
  Unknown
 
 
  B4GALNT4,SIGIRR,ANO9,PKP3
 
engchuan_15_ASD_discovery_controls-controlB228946_1007854752
 
 
  Unknown
 
 
  CEND1,SLC25A22,PANO1,RPLP2,SNORA52,CRACR2B,POLR2L,RNU6-1025P,TALDO1,GATD1,PIDD1,PNPLA2,CD151,TSPAN4,CHID1,AP2A2
 
engchuan_15_ASD_discovery_controls-controlB709920_1007843547
 
 
  Unknown
 
 
  IFITM5,IFITM1,IFITM3,NLRP6,PGGHG,IFITM2
 
engchuan_15_ASD_discovery_controls-controlB771049_1007845881
 
 
  Unknown
 
 
  RN7SL838P,RNH1,ANO9,PTDSS2
 
engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
 
 
  Unknown
 
 
  ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
engchuan_15_ASD_discovery_controls-controlHABC_900992_900992
 
 
  Unknown
 
 
  SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3
 
engchuan_15_ASD_discovery_controls-controlHABC_901241_901241
 
 
  Unknown
 
 
  AP2A2,MUC6
 
engchuan_15_ASD_discovery_controls-controlHABC_902523_902523
 
 
  Unknown
 
 
  KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-5,FAM99A,FAM99B,KRTAP5-6,DUSP8,KRTAP5-4,KRTAP5-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902728_902728
 
 
  Unknown
 
 
  ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
engchuan_15_ASD_discovery_controls-controlHABC_902728_902728
 
 
  Unknown
 
 
  IFITM5,IFITM1,IFITM3,IFITM2
 
kanduri_15_ASD_discovery_controls-control_split1039
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, H19(dist=46966),IGF2(dist=63127)
 
kanduri_15_ASD_discovery_controls-control_split1268
 
 
  Unknown
 
 
  BRSK2,CTSD,DUSP8,IFITM10,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LSP1,MOB2,MRPL23,MUC5B,SYT8,TNNI2,TNNT3,TOLLIP
 
kanduri_15_ASD_discovery_controls-control_split763
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, H19(dist=46966),IGF2(dist=63127)
 
kanduri_15_ASD_discovery_controls-control_split773
 
 
  Unknown
 
 
  C11orf35,LRRC56
 
kanduri_15_ASD_discovery_controls-control_split870
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, H19(dist=46966),IGF2(dist=63127)
 
krumm_13_ASD_discovery_controls-control11810.s1
 
 
  Paternal
  Simplex
 
  SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
krumm_15_ASD_discovery_controls-control11810.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
krumm_15_ASD_discovery_controls-control14247.s1
  Omni2.5-4v1
 
  De novo
 
 
  SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13,NLRP6
 
krumm_15_ASD_discovery_controls-control14492.s1
  Omni2.5-4v1
 
  Paternal
 
 
  C11orf21,RNU6-878P,TSPAN32,RPL26P30,CD81,CD81-AS1
 
sanders_11_ASD_discovery_controls-11439.s1
 
 
  Both parents
  Simplex (quad)
  NA
  BRSK2
 
sanders_11_ASD_discovery_controls-11571.s1
 
 
  Both parents
  Simplex (quad)
  NA
  BRSK2
 
sanders_11_ASD_discovery_controls-11810.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SCGB1C1,ODF3,MIR6743,BET1L,RIC8A,SIRT3,PSMD13
 
sanders_11_ASD_discovery_controls-11986.s1
 
 
  Both parents
  Simplex (quad)
  NA
  TSSC4,CD81,TRPM5
 
sanders_11_ASD_discovery_controls-12071.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
stamouli_18_ASD/NDD_discovery_controls-family37_Twin_1
 
 
  Unknown
  N/A (both twins typically developing)
 
  IRF7,PHRF1,CDHR5
 
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
 
 
  Unknown
  N/A (both twins typically developing)
 
  B4GALNT4,SIGIRR,ANO9,PKP3
 

No Animal Model Data Available
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