HELP     Sign In

13q14.11CNV Type: Deletion-Duplication


Largest CNV size: 713243 bp

Statistics Box:
Number of Reports: 16



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 
 
 87743
 0
 1
 1
 cuscó_09_ASD_discovery_cases
 74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
 96
 ASD
 
 87.5% Male
 415433
 0
 1
 1
 cuscó_09_ASD_replication_cases
 Replication cohort of ASD patients
 215
 ASD
 
 
 415433
 0
 0
 0
 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
 
 
 88257
 0
 1
 1
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 45616
 2
 0
 2
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 506253
 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
 713243
 8
 16
 24
 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
 3206669
 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.
 
 
 675432
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 323338
 1
 2
 3
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 609255
 0
 1
 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
 332332
 1
 1
 2
 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
 20943
 0
 2
 2
 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
 262896
 0
 6
 6
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 771846
 0
 4
 4
 brand_15_ASD_discovery_cases
 ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
 259
 Diagnosis of ASD
 N/A
 N/A
 587348
 0
 4
 4
 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
 287115
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 cuscó_09_ASD_discovery_controls
 Control individuals matched for population ancestry
 52
 Control
 
 51.9% Male
 415433
 0
 0
 0
 cuscó_09_ASD_replication_controls
 Replication control cohort
 120
 Control
 
 
 415433
 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.
 
 0
 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.
 
 46331
 2
 8
 10
 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
 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.
 
 
 675432
 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)
 323338
 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
 370064
 1
 1
 2
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 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)
 381332
 1
 3
 4
 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
 427154
 1
 13
 14
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 575990
 0
 1
 1
 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
 152864
 0
 1
 1
 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
 287115
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affy 500K
 dChip, CNAG, & GEMCA
 
 qPCR, qmPCR
 cuscó_09_ASD_discovery_cases
  Spanish
 aCGH
  BAC array containing 5442 large insert DNA fragments
 PennCNV
 CNV partition
 MLPA, aCGH, and/or array SNP
 cuscó_09_ASD_replication_cases
 
 MLPA
  MLPA panel containing probes targeting CNVs identified in discovery
 
 
 
 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), and/or array SNP (Affy 500K)
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3
 None
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 qPCR
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 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
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 brand_15_ASD_discovery_cases
  N/A
 Long-insert WGS
  Long-insert whole genome sequencing
 LUMPY, cn.MOPS, SV classifier
 
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
 Affymetrix Genotyping Console v4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affy 500K
  dChip, CNAG, & GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affy 500K
  dChip, CNAG, & GEMCA
 
 
  cuscó_09_ASD_discovery_controls
  Spanish
  aCGH
  BAC array containing 5442 large insert DNA fragments
 
 
 
  cuscó_09_ASD_replication_controls
 
  MLPA
  MLPA panel containing probes targeting CNVs identified in discovery
 
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  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
 
 
  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
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
  Affymetrix Genotyping Console v4.1
  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
  marshall_08_ASD_discovery_cases-NA0117-000
 NA
 M
 ASD
 NA
 NA
 42511458
 42599200
  87743
 NCBI Build35
 Duplication
 Yes
  cuscó_09_ASD_discovery_cases-AUT21
 NA
 F
 Autism
 NA
 Moderate MR
 41003320
 41418753
  415433
 
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5405_3
 NA
 M
 ASD
 NA
 NA
 42514539
 42602795
  88257
 
 Duplication
 Yes
  gai_11_ASD_discovery_cases-AU1265302
 
 
 Autism
 
 
 43946832
 43992447
  45616
 
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1265303
 
 
 Autism
 
 
 43946832
 43992447
  45616
 
 Deletion
 No
  nord_11_ASD_discovery_cases-250-1
 
 
 ASD
 
 
 42331841
 42838093
  506253
 
 Duplication
 No
  sanders_11_ASD_discovery_cases-11050.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
 42240108
 42953351
  713243
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11328.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81
 42497411
 42505143
  7732
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11348.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 64
 42639846
 42686177
  46331
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11353.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64
 43765641
 43774701
  9060
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 42497411
 42505143
  7732
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11494.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
 40188779
 40223018
  34239
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11512.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
 41002828
 41003710
  882
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12271.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40
 41854621
 41871297
  16676
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12332.p1
 12
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
 42497411
 42505143
  7732
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12343.p1
 6
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
 40621779
 40810340
  188561
 hg18
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-12343.p1
 6
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
 40002610
 40574452
  571842
 hg18
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-12372.p1
 15
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80
 41854621
 41871297
  16676
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12405.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
 42501093
 42505143
  4050
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12405.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
 40254042
 40263233
  9191
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 42497411
 42505143
  7732
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 40248336
 40263233
  14897
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12597.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
 40254042
 40263233
  9191
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12723.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
 42501093
 42505143
  4050
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 42610053
 42649175
  39122
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 42249947
 42426769
  176822
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12851.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
 42497411
 42505143
  7732
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12989.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
 42497411
 42505143
  7732
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13136.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
 42497411
 42505143
  7732
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13193.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 41854621
 41871297
  16676
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002798
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 40271641
 43478310
  3206669
 NCBI36
 Duplication
 Yes
  girirajan_11_ASD_discovery_cases-Si151
 8
 F
 Autism
 ADOS score: 7. Vineland composite score: 50.
 Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 18; Non-verbal IQ, 42.
 40002933
 40678365
  675432
 UCSC Build36/hg18
 Duplication
 No
  prasad_12_ASD_discovery_cases-case73621
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 42507264
 42607772
  100509
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case122628
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 42372518
 42687563
  315046
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case115821L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 42592861
 42916198
  323338
 
 Deletion
 No
  krumm_13_ASD_discovery_cases-case12343.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 12343. SRS score N/A.
 Full-scale IQ (FSIQ) score of 30.
 41301637
 41910892
  609255
 hg19
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-139
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: N/A.
 Developmental delay: N/A. Intellectual disability: N/A.
 39634262
 39966593
  332332
 hg18
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-304
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 42373191
 42419227
  46037
 hg18
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case505-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 43587160
 43608103
  20943
 hg19
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case677-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 43587160
 43608103
  20943
 hg19
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14263_3860
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 42415127
 42610053
  194926
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16030_1571003001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 42389848
 42652744
  262896
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case2187_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 42639846
 42686177
  46331
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4201_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 42639846
 42686177
  46331
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4321_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 41182142
 41216774
  34632
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4430_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 42639846
 42686177
  46331
 hg18
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11050.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 43360898
 43987050
  626152
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12343.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 41133659
 41905505
  771846
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12785.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 43358203
 43528157
  169954
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12857.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 43358203
 43935588
  577385
 hg19
 Duplication
 Yes
  brand_15_ASD_discovery_cases-case8
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 13 in this case. Duplication previously identified by aCGH (chr13:43351947-43528769; hg19).
 
 43349008
 43529269
  180261
 GRCh37/hg19
 Duplication
 No
  brand_15_ASD_discovery_cases-case8
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 13 in this case. Duplication previously identified by aCGH (chr13:43712053-43751175; hg19).
 
 43708563
 43751994
  43431
 GRCh37/hg19
 Duplication
 No
  brand_15_ASD_discovery_cases-case14
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 13 in this case. Duplication previously identified by aCGH as combined with another duplication (chr13:41104610-41912340; hg19).
 
 41097777
 41685125
  587348
 GRCh37/hg19
 Duplication
 No
  brand_15_ASD_discovery_cases-case14
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 13 in this case. Duplication previously identified by aCGH as combined with another duplication (chr13:41104610-41912340; hg19).
 
 41717938
 41917859
  199921
 GRCh37/hg19
 Duplication
 No
  yin_16_ASD_discovery_cases-case448
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 43463299
 43750413
  287115
 GRCh37/hg19
 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
  sanders_11_ASD_discovery_controls-11176.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  42497411
  42505143
  7732
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11348.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  42639846
  42686177
  46331
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11360.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  42497411
  42505143
  7732
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11657.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  42501093
  42505143
  4050
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12033.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  42497411
  42514539
  17128
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12229.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  42497411
  42505143
  7732
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12373.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  43988478
  43997224
  8746
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12572.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  42497411
  42502158
  4747
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-13136.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  42497411
  42505143
  7732
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-13193.s1
  11
  M
  Control (matched sibling)
  NA
  NA
  41854621
  41871297
  16676
  hg18
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-34608110415
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  42097668
  42467214
  369546
  Build36/hg18
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-43206106894
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  42904247
  43274311
  370064
  Build36/hg18
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C27734A
  N/A
  F
  Control
  NIMH Control (NIMH ID 28812)
 
  42404663
  42486306
  81644
  hg19
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C29036A
  N/A
  M
  Control
  NIMH Control (NIMH ID 93336)
 
  43462384
  43843715
  381332
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C41075A
  N/A
  M
  Control
  NIMH Control (NIMH ID 62731)
 
  43474444
  43788259
  313816
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C46117
  N/A
  F
  Control
  NIMH Control (NIMH ID 16487)
 
  43474444
  43788259
  313816
  hg19
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900942_900942
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42314658
  42741812
  427154
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900705_900705
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42442964
  42631575
  188611
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900163_900163
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42629541
  42835692
  206151
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900150_900150
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42639846
  42686177
  46331
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB955457_1007875817
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41068080
  41101574
  33494
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB911786_1007854079
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42928966
  43082833
  153867
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB776821_1007846118
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42639846
  42686177
  46331
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB614568_1007871710
  N/A
  N/A
  Control
  No previous psychiatric history
 
  40107236
  40423586
  316350
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB610949_1007846393
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42631575
  42686177
  54602
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB562868_1007848470
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42319683
  42497411
  177728
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB413550_1007872281
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42369403
  42422816
  53413
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB383984_1007874900
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42372115
  42686177
  314062
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB337517_1007874370
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41310660
  41470649
  159989
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB183075_1007853732
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42286292
  42332768
  46476
  hg18
  Duplication
  No
  krumm_15_ASD_discovery_controls-control12857.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  43358203
  43934193
  575990
  hg19
  Duplication
  Yes
  kanduri_15_ASD_discovery_controls-control_split1297
  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
 
  43593764
  43746627
  152864
  N/A
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 marshall_08_ASD_discovery_cases-NA0117-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 DNAJC15
 
 cuscó_09_ASD_discovery_cases-AUT21
 MLPA & array SNP (Illumina 370)
 
 Maternal
 NA
 NA
 KIAA0564
 
 pinto_10_ASD_discovery_cases-case5405_3
 Agilent1M
 
 paternal
 NA
 NA
 DNAJC15
 
 gai_11_ASD_discovery_cases-AU1265302
 
 
 Inherited
 
 
 TSC22D1 (intronic)
 
 gai_11_ASD_discovery_cases-AU1265303
 
 
 Inherited
 
 
 TSC22D1 (intronic)
 
 nord_11_ASD_discovery_cases-250-1
 
 
 Paternal
 
 
 DNAJC15,EPSTI1,ENOX1
 
 sanders_11_ASD_discovery_cases-11050.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C13orf30, DNAJC15, ENOX1, EPSTI1
 
 sanders_11_ASD_discovery_cases-11328.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 DNAJC15 intronic
 
 sanders_11_ASD_discovery_cases-11348.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ENOX1
 
 sanders_11_ASD_discovery_cases-11353.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DNAJC15 intronic
 
 sanders_11_ASD_discovery_cases-11494.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MRPS31
 
 sanders_11_ASD_discovery_cases-11512.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12271.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12332.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DNAJC15 intronic
 
 sanders_11_ASD_discovery_cases-12343.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 KBTBD7, MTRF1, NARG1L
 
 sanders_11_ASD_discovery_cases-12343.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 ELF1, FOXO1, MRPS31, SLC25A15, SUGT1L1, WBP4
 
 sanders_11_ASD_discovery_cases-12372.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12405.p1
 
 
 Both parents
 Simplex (trio)
 NA
 DNAJC15 intronic
 
 sanders_11_ASD_discovery_cases-12405.p1
 
 
 Unknown
 Simplex (trio)
 NA
 SLC25A15
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DNAJC15 intronic
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SLC25A15
 
 sanders_11_ASD_discovery_cases-12597.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SLC25A15
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DNAJC15 intronic
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf30, EPSTI1
 
 sanders_11_ASD_discovery_cases-12851.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DNAJC15 intronic
 
 sanders_11_ASD_discovery_cases-12989.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DNAJC15 intronic
 
 sanders_11_ASD_discovery_cases-13136.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DNAJC15 intronic
 
 sanders_11_ASD_discovery_cases-13193.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002798
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SLC25A15,ELF1,WBP4,KBTBD6,KBTBD7,MTRF1,NAA16,RGCC,VWA8,DGKH,AKAP11,TNFSF11,FAM216B,EPSTI1,DNAJC15,ENOX1,CCDC122,LACC1
 
 girirajan_11_ASD_discovery_cases-Si151
 
 
 Unknown
 Simplex
 
 FOXO1,MRPS31,SLC25A15,ELF1,WBP4,KBTBD6,KBTBD7
 
 prasad_12_ASD_discovery_cases-case73621
 
 
 Unknown
 Unknown
 Unknown
 DNAJC15
 
 prasad_12_ASD_discovery_cases-case122628
 
 
 Unknown
 Unknown
 Unknown
 ENOX1,DNAJC15,EPSTI1
 
 prasad_12_ASD_discovery_cases-case115821L
 
 
 Unknown
 Unknown
 Unknown
 ENOX1
 
 krumm_13_ASD_discovery_cases-case12343.p1
 Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
 
 De novo
 Simplex
 Segregated
 KBTBD7, KBTBD6, MTRF1, MRPS31, NAA16, MIR320D1, ELF1, SLC25A15, WBP4
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-139
 qPCR
 
 Maternal
 Unknown
 Unknown
 FOXO1,TTL/TEL_fusion
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-304
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 EPSTI1
 
 gazzellone_14_ASD_discovery_cases-case505-3
 
 
 Unknown
 Unknown
 Unknown
 DNAJC15
 
 gazzellone_14_ASD_discovery_cases-case677-3
 
 
 Unknown
 Unknown
 Unknown
 DNAJC15
 
 engchuan_15_ASD_discovery_cases-case14263_3860
 
 
 Unknown
 
 
 DNAJC15;EPSTI1
 
 engchuan_15_ASD_discovery_cases-case16030_1571003001
 
 
 Unknown
 
 
 DNAJC15;EPSTI1
 
 engchuan_15_ASD_discovery_cases-case2187_1
 
 
 Unknown
 
 
 ENOX1
 
 engchuan_15_ASD_discovery_cases-case4201_1
 
 
 Unknown
 
 
 ENOX1
 
 engchuan_15_ASD_discovery_cases-case4321_1
 
 
 Unknown
 
 
 KIAA0564
 
 engchuan_15_ASD_discovery_cases-case4430_1
 
 
 Unknown
 
 
 ENOX1
 
 krumm_15_ASD_discovery_cases-case11050.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 FAM216B,EPSTI1,DNAJC15,ENOX1
 
 krumm_15_ASD_discovery_cases-case12343.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 FOXO1,MRPS31,SLC25A15,ELF1,WBP4,KBTBD6,KBTBD7,MTRF1,NAA16
 
 krumm_15_ASD_discovery_cases-case12785.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 FAM216B,EPSTI1,Intron (2/3),Intron (3/3),Exon (4/4),Exon (13/13),Intron (12/12),Intron (11/12),Intron (10/12),Intron (9/12),Intron (8/12),Intron (7/12),Intron (6/12),Exon (11/11),Intron (10/10),Intron (9/10),Intron (8/10),Intron (7/10),Intron (6/10)
 
 krumm_15_ASD_discovery_cases-case12857.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FAM216B,EPSTI1,DNAJC15,ENOX1
 
 brand_15_ASD_discovery_cases-case8
 
 
 Maternal
 Simplex
 Unknown
 FAM216B,EPSTI1
 
 brand_15_ASD_discovery_cases-case8
 
 
 Maternal
 Simplex
 Unknown
 0 RefSeq genes
 
 brand_15_ASD_discovery_cases-case14
 
 
 De novo
 Simplex
 Possibly segregated
 FOXO1,MRPS31,SLC25A15,ELF1,WBP4
 
 brand_15_ASD_discovery_cases-case14
 
 
 De novo
 Simplex
 Possibly segregated
 KBTBD7,MTRF1,NAA16
 
 yin_16_ASD_discovery_cases-case448
 
 
 Unknown
 Unknown
 Unknown
 EPSTI1,DNAJC15
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11176.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DNAJC15 intronic
 
sanders_11_ASD_discovery_controls-11348.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ENOX1
 
sanders_11_ASD_discovery_controls-11360.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DNAJC15 intronic
 
sanders_11_ASD_discovery_controls-11657.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DNAJC15 intronic
 
sanders_11_ASD_discovery_controls-12033.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DNAJC15 intronic
 
sanders_11_ASD_discovery_controls-12229.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DNAJC15 intronic
 
sanders_11_ASD_discovery_controls-12373.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TSC22D1 intronic
 
sanders_11_ASD_discovery_controls-12572.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DNAJC15 intronic
 
sanders_11_ASD_discovery_controls-13136.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DNAJC15 intronic
 
sanders_11_ASD_discovery_controls-13193.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
girirajan_13b_ASD_discovery_controls-34608110415
 
 
  Unknown
 
 
  FAM216B,EPSTI1
 
girirajan_13b_ASD_discovery_controls-43206106894
 
 
  Unknown
 
 
  ENOX1
 
poultney_13_ASD_discovery_controls-control04C27734A
 
 
  Unknown
 
 
  VWA8
 
poultney_13_ASD_discovery_controls-control04C29036A
 
 
  Unknown
 
 
  EPSTI1,DNAJC15,ENOX1
 
poultney_13_ASD_discovery_controls-control05C41075A
 
 
  Unknown
 
 
  EPSTI1,DNAJC15,ENOX1
 
poultney_13_ASD_discovery_controls-control05C46117
 
 
  Unknown
 
 
  EPSTI1,DNAJC15,ENOX1
 
engchuan_15_ASD_discovery_controls-controlHABC_900942_900942
 
 
  Unknown
 
 
  DNAJC15;ENOX1;EPSTI1
 
engchuan_15_ASD_discovery_controls-controlHABC_900705_900705
 
 
  Unknown
 
 
  DNAJC15;EPSTI1
 
engchuan_15_ASD_discovery_controls-controlHABC_900163_900163
 
 
  Unknown
 
 
  ENOX1
 
engchuan_15_ASD_discovery_controls-controlHABC_900150_900150
 
 
  Unknown
 
 
  ENOX1
 
engchuan_15_ASD_discovery_controls-controlB955457_1007875817
 
 
  Unknown
 
 
  KIAA0564
 
engchuan_15_ASD_discovery_controls-controlB911786_1007854079
 
 
  Unknown
 
 
  ENOX1
 
engchuan_15_ASD_discovery_controls-controlB776821_1007846118
 
 
  Unknown
 
 
  ENOX1
 
engchuan_15_ASD_discovery_controls-controlB614568_1007871710
 
 
  Unknown
 
 
  ELF1;FOXO1;LOC100616668;MIR320D1;MIR621;MRPS31;SLC25A15;SUGT1P3
 
engchuan_15_ASD_discovery_controls-controlB610949_1007846393
 
 
  Unknown
 
 
  ENOX1
 
engchuan_15_ASD_discovery_controls-controlB562868_1007848470
 
 
  Unknown
 
 
  DNAJC15;EPSTI1
 
engchuan_15_ASD_discovery_controls-controlB413550_1007872281
 
 
  Unknown
 
 
  EPSTI1
 
engchuan_15_ASD_discovery_controls-controlB383984_1007874900
 
 
  Unknown
 
 
  DNAJC15;ENOX1;EPSTI1
 
engchuan_15_ASD_discovery_controls-controlB337517_1007874370
 
 
  Unknown
 
 
  KIAA0564
 
engchuan_15_ASD_discovery_controls-controlB183075_1007853732
 
 
  Unknown
 
 
  0 genes
 
krumm_15_ASD_discovery_controls-control12857.s1
  1M-Duov3
 
  Maternal
 
 
  FAM216B,EPSTI1,DNAJC15,ENOX1
 
kanduri_15_ASD_discovery_controls-control_split1297
 
 
  Unknown
 
 
  DNAJC15
 

No Animal Model Data Available
HELP