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13q31.3CNV Type: Deletion-Duplication


Largest CNV size: 407254 bp

Statistics Box:
Number of Reports: 12



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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
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
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
Duplication
Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17~92 cluster.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion

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
 
 
 407254
 0
 3
 3
 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
 
 
 126859
 1
 0
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 65137
 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
 357582
 1
 2
 3
 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
 2123578
 5
 0
 5
 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
 352931
 5
 5
 10
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 76031
 1
 0
 1
 kannu_13_DD/ASD_discovery_cases
 Male proband re-referred to genetics lab at age of 3 years for assessment of autism.
 1
 Developmental delay, autistic behavior, postaxial polydactyly, and overgrowth
 4.5 yrs.
 Male
 909500
 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
 303879
 1
 0
 1
 hemmat_14_ASD/DD/ADHD_discovery_cases
 9-year-old male proband from a pedigree with five maternal half-brothers presenting with autism and developmental delay; their mother also presented with developmental delay
 1
 Case presented with autism spectrum disorder (ASD), developmental delay (DD), speech delay, attention deficit hyperactivity disorder (ADHD), dysmorphic features, short stature, and digital abnormalities.
 9 yrs.
 Male
 516000
 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
 456885
 8
 3
 11
 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
 5680
 1
 0
 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
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 236768
 2
 1
 3
 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)
 352931
 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
 464514
 5
 3
 8
 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
 5680
 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
 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)
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 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
 
 
 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
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 kannu_13_DD/ASD_discovery_cases
  Caucasian
 aCGH
  SignatureChipOS 105K array (Agilent)
 
 
 aCGH, QMPSF
 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)
 hemmat_14_ASD/DD/ADHD_discovery_cases
  N/A
 Array SNP
  Affymetrix CytoScan HD
 
 ChAS v2
 FISH
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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
 
 
  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
 
  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
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  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-NA0048-000
 NA
 M
 ASD
 NA
 NA
 93288520
 93344600
  56081
 NCBI Build35
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0326-003
 NA
 M
 ASD
 NA
 NA
 93497400
 93732931
  235532
 NCBI Build35
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0326-003
 NA
 M
 ASD
 NA
 NA
 89726966
 90134219
  407254
 NCBI Build35
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5115_3
 NA
 M
 ASD
 NA
 NA
 93587745
 93714603
  126859
 
 Deletion
 Yes
  itsara_10_ASD_discovery_cases-HI1493
 NA
 NA
 Autism
 NA
 NA
 89750374
 89815511
  65137
 UCSC Build36
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11284.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125
 89181459
 89288884
  107425
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11522.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
 90206640
 90255260
  48620
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11868.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
 91469869
 91827451
  357582
 hg18
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003974
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 89665667
 90816741
  1151074
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001622
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 90424007
 92547585
  2123578
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004338
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 90882152
 91078467
  196315
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000244
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 91065311
 91329264
  263953
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005097
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 92795312
 93079708
  284396
 NCBI36
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case55634
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 89255637
 89314434
  58798
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case81155
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 89732291
 90085221
  352931
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case81155
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 93509199
 93721180
  211982
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case102830
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 90958823
 91067952
  109130
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case110953
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 89661145
 89665867
  4723
 
 Duplication
 No
  prasad_12_ASD_discovery_cases-case138145L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 91325119
 91347213
  22095
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case146442L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 91146602
 91160878
  14277
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case146449L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 88810171
 88818771
  8601
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseL879
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 92194931
 92202851
  7921
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseMM0234-5
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 93594054
 93714629
  120576
 
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU1165302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 93475099
 93551130
  76031
 hg18
 Deletion
 No
  kannu_13_DD/ASD_discovery_cases-case1
 4.5 yrs.
 M
 Developmental delay and autistic behavior
 Case re-referred at age of 3 years for assessment of autism (no formal diagnosis of ASD noted). Birth/neonatal history: born at 33 weeks 3 days gestation by C-section; pregnancy complicated by type II diabetes, hypertension, and oligohydramnios; mother (41 years old at time of delivery) given single dose of corticosteroids prior to delivery; birth weight of 1813 g (25th %ile), lenght of 40 cm (3rd %ile), and head circumference of 32 cm (25th %ile); telecanthus and bilateral postaxial polydactyly (which was later ligated) noted; cranial ultrasound revealed right choroid plexus cyst; echocardiogram disclosed patent ductus ateriosis and two small secundum atrial septal defects; normal male karyotype (46, XY), 22q11.2 microdeletion excluded by FISH analysis; neonatal course otherwise relatively benign. Developmental milestones: development concerns noted at age of 11 months (slept poorly at night, did not vocalize); formal developmental assessment at age of 2 years suggested autistic behavior and developmental delay; non-verbal and did not use gestures to communicate; delays in gross motor development (difficulties in climbing stairs, running, throwing, or catching a ball). Language and communication evaluation: few single words in vocabulary. Behavioral/psychiatric evaluation: autistic behavior suggested at age of 2 years; preferred playing by himself, easily upset by other children, easily startled by sound, adapted poorly to change, failure to respond to name, failure to demonstrate stranger anxiety or imitation skills. Brain imaging: cerebral MRI at age of 4 years showed no structural brain abnormalities. Other medical history: bilateral inguinal hernia surgery at age of 2 years 11 months; recurrent wheeze with respiratory infections. Dysmorphic features: prominent, posteriorly-rotated, low-set ears, bilateral epicanthic folds, up-slanting palpebral fissures, prominent teeth, high-arched palate, prominent jaw. Growth parameters: weight of 17.1 kg (75
 Developmental delay; case making slow progress with development at age of 4.5 years.
 91520000
 92430000
  909500
 GRCh37/hg19
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 92921176
 93225054
  303879
 hg18
 Deletion
 No
  hemmat_14_ASD/DD/ADHD_discovery_cases-case1
 9 yrs.
 M
 ASD, DD, and ADHD
 Birth/neonatal history: born at full term via vaginal delivery to a G4P4A0L4 25-year-old mother without any known maternal complications or infections; birth weight of 3580 g; no prenatal, perinatal, or postnatal complications noted. Developmental milestones: walking at 12 months; did not speak words until age of 3 years. Language and communication evaluation: speech delay. Motor and musculoskeletal evaluation: metacarpal and metatarsal anomalies, flat feet, lower facial weakness; digit anomalies including brachydactyly, wide nail beds, deviation of fourth digits to the ulnar side, radially displaced thumbs, mild clinodactyly; hand breadth, hand length, and hand circumference were <1% for age and gender. Behavioral/psychiatric evaluation: autism spectrum disorder, attention deficit hyperactivity disorder. Dysmorphic features: hypertelorism, downward slanting palpebral fissures, frequent dental caries. Growth parameters: short stature (10th %ile), mild macrocephaly in relation to body size. Family history: mother with short stature, digital abnormalities, and developmental delay (positive for 13q31.3 duplication); case had five half-brothers resulting from his mother's four different marriages, all of whom reported to exhibit developmental delay and autism; one half-brother also presented with short stature and digital abnormalities.
 Developmental delay; interventions included speech and physical therapy, an individualized education plan, and special education for diagnoses of developmental delay and ASD.
 91989261
 92504857
  516000
 hg19
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case2201_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 92404084
 92484383
  80299
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3148_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93366279
 93461051
  94772
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3429_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 89279420
 89442958
  163538
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4255_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 89227194
 89684079
  456885
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4418_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 92946883
 92990353
  43470
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4420_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 92832935
 92995217
  162282
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4508_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93773789
 93822232
  48443
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5115_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93587745
 93714603
  126858
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5291_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 89258066
 89316913
  58847
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5355_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 90961358
 91066847
  105489
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8472_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 90490028
 90606081
  116053
 hg18
 Deletion
 No
  yin_16_ASD_discovery_cases-case451
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 93039812
 93045491
  5680
 GRCh37/hg19
 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
  sanders_11_ASD_discovery_controls-11284.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  89181459
  89288884
  107425
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11522.s1
  15
  M
  Control (matched sibling)
  NA
  NA
  90206640
  90254869
  48229
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11843.s1
  16
  F
  Control (matched sibling)
  NA
  NA
  90863094
  91099862
  236768
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901214_901214
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89219565
  89684079
  464514
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
  N/A
  N/A
  Control
  No previous psychiatric history
 
  90859879
  91099862
  239983
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900839_900839
  N/A
  N/A
  Control
  No previous psychiatric history
 
  92082662
  92149224
  66562
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900157_900157
  N/A
  N/A
  Control
  No previous psychiatric history
 
  91696453
  91966414
  269961
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900157_900157
  N/A
  N/A
  Control
  No previous psychiatric history
 
  91427473
  91653135
  225662
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB776367_1007875364
  N/A
  N/A
  Control
  No previous psychiatric history
 
  91758694
  91841374
  82680
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB742876_1007852892
  N/A
  N/A
  Control
  No previous psychiatric history
 
  90859879
  91099862
  239983
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036004877_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89219565
  89684079
  464514
  hg18
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 marshall_08_ASD_discovery_cases-NA0048-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 GPC6
 
 marshall_08_ASD_discovery_cases-SK0326-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 GPC6
 
 marshall_08_ASD_discovery_cases-SK0326-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 0 genes
 
 pinto_10_ASD_discovery_cases-case5115_3
 Agilent1M
 
 paternal
 NA
 NA
 GPC6
 
 itsara_10_ASD_discovery_cases-HI1493
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 0 genes
 
 sanders_11_ASD_discovery_cases-11284.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11522.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11868.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GPC5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003974
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001622
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GPC5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004338
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GPC5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000244
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GPC5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005097
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GPC6
 
 prasad_12_ASD_discovery_cases-case55634
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case81155
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case81155
 
 
 Unknown
 Unknown
 Unknown
 GPC6
 
 prasad_12_ASD_discovery_cases-case102830
 
 
 Unknown
 Unknown
 Unknown
 GPC5
 
 prasad_12_ASD_discovery_cases-case110953
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case138145L
 
 
 Unknown
 Unknown
 Unknown
 GPC5
 
 prasad_12_ASD_discovery_cases-case146442L
 
 
 Unknown
 Unknown
 Unknown
 GPC5
 
 prasad_12_ASD_discovery_cases-case146449L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-caseL879
 
 
 Unknown
 Unknown
 Unknown
 GPC5
 
 prasad_12_ASD_discovery_cases-caseMM0234-5
 
 
 Unknown
 Unknown
 Unknown
 GPC6
 
 girirajan_13a_ASD_discovery_cases-AU1165302
 
 
 Unknown
 Multiplex
 Unknown
 GPC6
 
 kannu_13_DD/ASD_discovery_cases-case1
 aCGH, QMPSF
 Maternal
 Maternal
 Possibly multi-generational
 Segregated
 LINC00410, LINC00379, MIR17HG, MIR17, MIR18A, MIR19A, MIR20A, MIR19B1, MIR92A1, GPC5
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 GPC6
 
 hemmat_14_ASD/DD/ADHD_discovery_cases-case1
 FISH
 Possibly maternal
 Maternal
 Multiplex
 Not segregated (not all ASD-affected siblings carry 13q31.3 duplication)
 MIR17, MIR18A, MIR19A, MIR20A, MIR19B1, MIR92A1, GPC5
 
 engchuan_15_ASD_discovery_cases-case2201_1
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3148_4
 
 
 Unknown
 
 
 GPC6
 
 engchuan_15_ASD_discovery_cases-case3429_3
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case4255_1
 
 
 Unknown
 
 
 MIR622
 
 engchuan_15_ASD_discovery_cases-case4418_1
 
 
 Unknown
 
 
 GPC6
 
 engchuan_15_ASD_discovery_cases-case4420_1
 
 
 Unknown
 
 
 GPC6
 
 engchuan_15_ASD_discovery_cases-case4508_1
 
 
 Unknown
 
 
 GPC6
 
 engchuan_15_ASD_discovery_cases-case5115_3
 
 
 Unknown
 
 
 GPC6
 
 engchuan_15_ASD_discovery_cases-case5291_4
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case5355_3
 
 
 Unknown
 
 
 GPC5
 
 engchuan_15_ASD_discovery_cases-case8472_201
 
 
 Unknown
 
 
 0 genes
 
 yin_16_ASD_discovery_cases-case451
 
 
 Unknown
 Unknown
 Unknown
 GPC5
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11284.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11522.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11843.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GPC5
 
engchuan_15_ASD_discovery_controls-controlHABC_901214_901214
 
 
  Unknown
 
 
  MIR622
 
engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
 
 
  Unknown
 
 
  GPC5
 
engchuan_15_ASD_discovery_controls-controlHABC_900839_900839
 
 
  Unknown
 
 
  GPC5
 
engchuan_15_ASD_discovery_controls-controlHABC_900157_900157
 
 
  Unknown
 
 
  GPC5
 
engchuan_15_ASD_discovery_controls-controlHABC_900157_900157
 
 
  Unknown
 
 
  GPC5
 
engchuan_15_ASD_discovery_controls-controlB776367_1007875364
 
 
  Unknown
 
 
  GPC5
 
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
 
 
  Unknown
 
 
  GPC5
 
engchuan_15_ASD_discovery_controls-control110036004877_
 
 
  Unknown
 
 
  MIR622
 

No Animal Model Data Available
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