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13q21.1CNV Type: Deletion-Duplication


Largest CNV size: 537144 bp

Statistics Box:
Number of Reports: 17



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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-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

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
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.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
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.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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
 
 
 373277
 0
 1
 1
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 65400
 1
 0
 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
 
 
 74422
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 107632
 1
 0
 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
 537144
 25
 2
 27
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 59631
 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
 2567573
 2
 3
 5
 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
 25162
 1
 1
 2
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 334000
 1
 0
 1
 tabet_12_ASD_discovery_cases
 Three affected siblings from an autism multiplex family born to non-consanguineous parents.
 3
 Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
 Range, 17 yrs. 6 mos.-21 yrs.
 100% Male
 5623
 1
 0
 1
 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
 304000
 1
 0
 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
 191851
 4
 0
 4
 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
 370802
 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
 351870
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 409288
 8
 3
 11
 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
 59152
 1
 1
 2
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 900000
 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
 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.
 
 333984
 1
 0
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 98479
 19
 0
 19
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 59631
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 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)
 191851
 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
 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
 331739
 11
 5
 16
 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
 58110
 2
 0
 2
 leppa_16_ASD_discovery_controls
 Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 572
 Control
 N/A
 N/A
 900000
 0
 1
 1

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
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affy 500K
 BRLMM
 dChip
 
 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
 
 
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 aCGH (Agilent 4x180K or 8x60K)
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 tabet_12_ASD_discovery_cases
  Mixed ethnic background (father Caucasian, mother from Mauritius)
 Solid phase hybridization
  Illumina HumanCNV370-Duo BeadChip
 CNV Partition v3.1.1, Penn CNV
 BeadStudio v3.2
 None
 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
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 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
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 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
 
 
  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
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  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
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  leppa_16_ASD_discovery_controls
  N/A
  Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
  PennCNV, QuantiSNP, GNOSIS
  GenomeStudio, CNVision
  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-MM0154-003
 NA
 F
 ASD
 NA
 NA
 54651953
 55025229
  373277
 NCBI Build35
 Duplication
 Yes
  morrow_08_ASD_discovery_cases-case10601
 NA
 
 ASD
 NA
 NA
 54838000
 54904000
  65400
 
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1493301
 
 
 Autism
 
 
 55077481
 55151902
  74422
 
 Deletion
 No
  nord_11_ASD_discovery_cases-307-1
 
 
 ASD
 
 
 54766483
 54874114
  107632
 
 Deletion
 No
  sanders_11_ASD_discovery_cases-11009.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11017.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11041.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
 56766542
 56786987
  20445
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11124.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
 52255924
 52260696
  4772
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11133.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11158.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 53686843
 53714327
  27484
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11352.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11432.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
 57491658
 57498905
  7247
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11450.p1
 5
 M
 ASD
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11464.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11489.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11508.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 83; verbal IQ, 75
 57047121
 57093870
  46749
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11510.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11782.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
 54041755
 54388596
  346841
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11859.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12139.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
 56766542
 56786987
  20445
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12185.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
 57491658
 57498905
  7247
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12221.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
 56766542
 56786987
  20445
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12260.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
 55866152
 55916382
  50230
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12301.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12617.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
 56766542
 56786987
  20445
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12956.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
 56766542
 56786987
  20445
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 56766542
 56786987
  20445
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13070.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
 55991781
 56528925
  537144
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 57491658
 57497032
  5374
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13174.p1
 10
 M
 Aspergers
 NA
 Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
 54089226
 54109182
  19956
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 56766542
 56786987
  20445
 hg18
 Deletion
 No
  levy_11_ASD_discovery_cases-12370.p1
 NA
 M
 ASD
 NA
 NA
 56627074
 56686704
  59631
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 53965490
 56533063
  2567573
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005015
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 54460858
 55253455
  792597
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005309
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 54460858
 55253455
  792597
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003883
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 54713198
 55253455
  540257
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003960
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 55747119
 56691414
  944295
 NCBI36
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11152
 NA
 M
 ASD
 NA
 NA
 57722436
 57747598
  25162
 hg19
 Duplication
 Yes
  celestino-soper_11_ASD_discovery_cases-11178
 NA
 M
 ASD
 NA
 NA
 57722436
 57747596
  25160
 hg19
 Deletion
 No
  gannon_11_ASD/DD_discovery_cases-patient42
 
 
 ASD
 Marked dysmorphism (External eyebrow flare, thin upper lip, long philtrum, bilateral epicanthal folds, and short nose)
 IQ<70
 NA
 NA
  334000
 
 Deletion
 No
  tabet_12_ASD_discovery_cases-patient1
 21 yrs.
 M
 Autism
 Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
 WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
 56659471
 56665094
  5623
 hg18/Build 36
 Deletion
 No
  lesca_12_EP_discovery_cases-caseDZ98
 NA
 M
 Epilepsy
 Phenotype: LKS-woESES. Seizure Characteristics: FS, absences. Autistic features: No. ADHD features: Yes. Other features: None.
 Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 86, performance IQ 121 (at 8 years of age).
 55153988
 55457772
  304000
 UCSC Genome Browser build37
 Deletion
 No
  prasad_12_ASD_discovery_cases-case45758
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 56513501
 56548183
  34683
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case130293
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 55056904
 55156862
  99959
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case51165L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 52269468
 52272711
  3244
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case91085L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 56657171
 56849021
  191851
 
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-20909111311
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 54001817
 54372619
  370802
 Build36/hg18
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-313
 N/A
 N/A
 CBLH-PMG
 Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
 
 56451347
 56803216
  351870
 hg18
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case14325_4390
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56606750
 56680301
  73551
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3032_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 54645263
 54691788
  46525
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3264_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52304529
 52713817
  409288
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3479_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 55056485
 55167399
  110914
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4150_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 55243360
 55311160
  67800
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4228_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 54215186
 54421779
  206593
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4251_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57047121
 57093870
  46749
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5142_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56508810
 56563090
  54280
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6347_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 56620289
 56680301
  60012
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6381_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57047121
 57093870
  46749
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8571_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 54041755
 54371733
  329978
 hg18
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case1925
 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.
 
 57813567
 57827157
  13591
 N/A
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case3067
 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.
 
 58709911
 58769062
  59152
 N/A
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1223301
 N/A
 M
 ASD
 
 
 58297000
 59171000
  900000
 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
  nord_11_ASD_discovery_controls-04C28234
 
 
  Control
 
 
  54041098
  54375081
  333984
 
  Deletion
 
  sanders_11_ASD_discovery_controls-11041.s1
  15
  M
  Control (matched sibling)
  NA
  NA
  56766542
  56786987
  20445
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11094.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  57491658
  57497032
  5374
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11108.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  55162969
  55261448
  98479
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11178.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  54089226
  54109182
  19956
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11201.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  57491658
  57497032
  5374
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11422.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  54917744
  54998011
  80267
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11679.s1
  4
  M
  Control (matched sibling)
  NA
  NA
  57491658
  57497032
  5374
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  55933224
  55940794
  7570
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12036.s1
  5
  F
  Control (matched sibling)
  NA
  NA
  57491658
  57497032
  5374
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12068.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  53702778
  53714327
  11549
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  56766542
  56786987
  20445
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12219.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  57491658
  57497032
  5374
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12224.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  57491658
  57497032
  5374
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12383.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  57491658
  57497032
  5374
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12499.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  56399414
  56408878
  9464
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12617.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  56766542
  56786987
  20445
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12749.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  57491658
  57497032
  5374
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12956.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  56766542
  56786987
  20445
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  56754936
  56786987
  32051
  hg18
  Deletion
  No
  levy_11_ASD_discovery_controls-12370.s1
  NA
  F
  Control
  NA
  NA
  56627074
  56686704
  59631
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902687_902687
  N/A
  N/A
  Control
  No previous psychiatric history
 
  54041755
  54371733
  329978
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901014_901014
  N/A
  N/A
  Control
  No previous psychiatric history
 
  54039994
  54371733
  331739
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57047121
  57093870
  46749
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900740_900740
  N/A
  N/A
  Control
  No previous psychiatric history
 
  54041755
  54371733
  329978
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900459_900459
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57061184
  57093870
  32686
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900446_900446
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55299477
  55374794
  75317
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB964915_1007843932
  N/A
  N/A
  Control
  No previous psychiatric history
 
  54956932
  55092179
  135247
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB931866_1007873677
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57047121
  57093870
  46749
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB812969_1007874819
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56638784
  56929227
  290443
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB692316_1007876014
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57047121
  57093870
  46749
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB650197_1007854049
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57047121
  57093870
  46749
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB637625_1007875341
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56606750
  56680301
  73551
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB502539_1007872577
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56620289
  56680301
  60012
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB304483_1007854080
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56620289
  56680301
  60012
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB256025_1007875987
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56620289
  56680301
  60012
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036015352_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56659471
  56790893
  131422
  hg18
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1247
  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
 
  58797394
  58855503
  58110
  N/A
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1402
  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
 
  58797394
  58855503
  58110
  N/A
  Deletion
  No
  leppa_16_ASD_discovery_controls-AU1223302
  N/A
  F
  Control
  Unaffected sibling
 
  58297000
  59171000
  900000
  GRCh37/hg19
  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-MM0154-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 0 genes
 
 morrow_08_ASD_discovery_cases-case10601
 
 
 Maternal
 NA
 NA
 0 genes
 
 gai_11_ASD_discovery_cases-AU1493301
 
 
 Inherited
 
 
 0 genes
 
 nord_11_ASD_discovery_cases-307-1
 
 
 Maternal
 
 
 0 genes
 
 sanders_11_ASD_discovery_cases-11009.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11017.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11041.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11124.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11133.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11352.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11432.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11450.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11464.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11489.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11508.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11510.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11782.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11859.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12139.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12185.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12221.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-12260.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12301.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12617.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12956.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-13070.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13174.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 levy_11_ASD_discovery_cases-12370.p1
 
 
 Maternal
 Simplex
 Not segregated
 LOC729233,LOC729240,LOC729246,LOC729250,PRR20
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005015
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005309
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003883
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003960
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 PRR20A,PRR20B,PRR20E,PRR20D,PRR20C
 
 celestino-soper_11_ASD_discovery_cases-11152
 aCGH (Agilent 4x180K or 8x60K)
 
 De novo
 Simplex
 NA
 LOC729233, LOC729240, LOC729246, LOC729250, PRR20
 
 celestino-soper_11_ASD_discovery_cases-11178
 
 
 Unknown
 Simplex
 NA
 LOC729233, LOC729240, LOC729246, LOC729250, PRR20
 
 gannon_11_ASD/DD_discovery_cases-patient42
 
 
 Unknown
 Unknown
 
 NA
 
 tabet_12_ASD_discovery_cases-patient1
 
 
 Paternal
 Multiplex
 Unknown
 0 genes
 
 lesca_12_EP_discovery_cases-caseDZ98
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case45758
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case130293
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case51165L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case91085L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 girirajan_13b_ASD_discovery_cases-20909111311
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-313
 qPCR
 
 Unknown
 Unknown
 Unknown
 PRR20
 
 engchuan_15_ASD_discovery_cases-case14325_4390
 
 
 Unknown
 
 
 PRR20A;PRR20B;PRR20C;PRR20D;PRR20E
 
 engchuan_15_ASD_discovery_cases-case3032_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3264_3
 
 
 Unknown
 
 
 OLFM4;PCDH8
 
 engchuan_15_ASD_discovery_cases-case3479_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4150_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4228_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4251_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case5142_4
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case6347_3
 
 
 Unknown
 
 
 PRR20A;PRR20B;PRR20C;PRR20D;PRR20E
 
 engchuan_15_ASD_discovery_cases-case6381_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case8571_201
 
 
 Unknown
 
 
 0 genes
 
 kanduri_15_ASD_discovery_cases-case1925
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, PRR20B(dist=69215),PCDH17(dist=378632)
 
 kanduri_15_ASD_discovery_cases-case3067
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, PCDH17(dist=406846),DIAPH3(dist=1470659)
 
 leppa_16_ASD_discovery_cases-AU1223301
 
 
 Paternal
 Multiplex
 Not segregated (CNV not present in affected siblings but is present in unaffected sibling AU1223302))
 PCDH17
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C28234
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11041.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11094.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11108.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11178.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11201.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11422.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11679.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12036.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12068.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12219.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12224.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12383.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12499.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12617.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12749.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12956.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
levy_11_ASD_discovery_controls-12370.s1
 
 
  Maternal
  Simplex
  NA
  LOC729233,LOC729240,LOC729246,LOC729250,PRR20
 
engchuan_15_ASD_discovery_controls-controlHABC_902687_902687
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_901014_901014
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900740_900740
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900459_900459
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900446_900446
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB964915_1007843932
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB931866_1007873677
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB812969_1007874819
 
 
  Unknown
 
 
  PRR20A;PRR20B;PRR20C;PRR20D;PRR20E
 
engchuan_15_ASD_discovery_controls-controlB692316_1007876014
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB650197_1007854049
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB637625_1007875341
 
 
  Unknown
 
 
  PRR20A;PRR20B;PRR20C;PRR20D;PRR20E
 
engchuan_15_ASD_discovery_controls-controlB502539_1007872577
 
 
  Unknown
 
 
  PRR20A;PRR20B;PRR20C;PRR20D;PRR20E
 
engchuan_15_ASD_discovery_controls-controlB304483_1007854080
 
 
  Unknown
 
 
  PRR20A;PRR20B;PRR20C;PRR20D;PRR20E
 
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
 
 
  Unknown
 
 
  PRR20A;PRR20B;PRR20C;PRR20D;PRR20E
 
engchuan_15_ASD_discovery_controls-control110036015352_
 
 
  Unknown
 
 
  0 genes
 
kanduri_15_ASD_discovery_controls-control_split1247
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, PCDH17(dist=494329),DIAPH3(dist=1384218)
 
kanduri_15_ASD_discovery_controls-control_split1402
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, PCDH17(dist=494329),DIAPH3(dist=1384218)
 
leppa_16_ASD_discovery_controls-AU1223302
 
 
  Paternal
  Multiplex
 
  PCDH17
 

No Animal Model Data Available
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