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13q21.2CNV Type: Deletion-Duplication


Largest CNV size: 611940 bp

Statistics Box:
Number of Reports: 9



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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Duplication
NA
Deletion

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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 611940
 14
 2
 16
 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
 519315
 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
 228000
 1
 0
 1
 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
 16886
 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
 133756
 1
 0
 1
 chong_14_DD/ID/ASD/MCA_discovery_cases
 Patients referred to clinical genetics service and recruited for CMA application study
 105
 Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
 N/A
 N/A
 1090000
 0
 1
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 51608
 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
 258138
 4
 1
 5
 moreira_16_ASD_discovery_cases
  NA NA
 ASD cases either referred to the Human Genome and Stem-Cell Research Center (HUG-CELL), Sao Paulo (most ascertained at the Institute of Psychiatry, University of Sao Paulo) or ascertained at the Hospital de Base, Faculty of Medicine od Sao Jose do Rio Preto; cohort derived from total of 505 Brazilian patients with idiopathic ASD
 98
 Diagnosis of ASD based on DSM-IV or DSM-V; additional evaluation performed in most cases using CARS and/or ADI-R
 
 
 306000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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.
 
 281159
 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.
 
 599837
 7
 1
 8
 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_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 N/A
 2
 0
 2
 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
 128970
 1
 2
 3
 moreira_16_ASD_discovery_controls
  NA NA
 Brazilian control individuals
 200
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 qPCR
 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
 aCGH (NimbleGen 135K array)
 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)
 chong_14_DD/ID/ASD/MCA_discovery_cases
  Chinese
 aCGH
  High-resolution 180K oligoarray
 
 
 aCGH (NimbleGen)
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH and/or exome sequencing
  Agilent 2x1M array (aCGH); Aligent Exome+ (exome seq.)
 
 Cnsolidate (aCGH), CoNVex
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 moreira_16_ASD_discovery_cases
  Brazil
 aCGH
  Agilent custom 6x80K microarray
 ADM-2
 Agilent Feature Extraction. Agilent Genomic Workbench 7
 aCGH, array SNP, and/or MLPA

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  moreira_16_ASD_discovery_controls
  Brazil
  aCGH
  Agilent custom 6x80K microarray
  ADM-2
  Agilent Feature Extraction. Agilent Genomic Workbench 7
 

Cases

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_cases-11158.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 59082048
 59095730
  13682
 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
 60108462
 60122519
  14057
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11322.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 60162695
 60164376
  1681
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11488.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 80
 58272829
 58275814
  2985
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11542.p1
 12
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
 60307806
 60357645
  49839
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11818.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
 59082048
 59095730
  13682
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12201.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
 58126290
 58132298
  6008
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12220.p1
 14
 F
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
 59072338
 59095730
  23392
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12225.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
 59082048
 59095730
  13682
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12287.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
 59082048
 59095730
  13682
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12445.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 91
 58270439
 58275096
  4657
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12628.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
 59574054
 59596464
  22410
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 59082048
 59095730
  13682
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 58174147
 58786087
  611940
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13166.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
 59082048
 59095730
  13682
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13233.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
 59082048
 59095730
  13682
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 59246315
 59765630
  519315
 NCBI36
 Deletion
 Yes
  lesca_12_EP_discovery_cases-caseDX94
 NA
 F
 Epilepsy
 Phenotype: s-CSWSS . Seizure Characteristics: Nocturnal, absences. Autistic features: No. ADHD features: No. Other features: Right frontal PMG.
 Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 76, performance IQ 51 (at 11 years of age).
 60419603
 60647521
  228000
 UCSC Genome Browser build37
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-12628.p1
 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
 59572895
 59589781
  16886
 hg18
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-301
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 59888507
 60022262
  133756
 hg18
 Deletion
 No
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4324
 N/A
 M
 Autistic features
 Mild autistic features
 
 59976743
 61069391
  1090000
 hg19
 Duplication
 Yes
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000006
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S9
 N/A
 60302954
 60354562
  51608
 GRCh37/hg19
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13017_223
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57607912
 57661660
  53748
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14096_1660
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 58701800
 58759028
  57228
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14310_4270
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 59324256
 59582394
  258138
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14339_4530
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 59324256
 59582394
  258138
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3049_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 57861818
 57970410
  108592
 hg18
 Duplication
 No
  moreira_16_ASD_discovery_cases-case3
  NA NA
 N/A
 M
 ASD
 Phenotype: non-syndromic ASD (case does not present with dysmorphic features or congenital malformations)
 
 60420512
 60727008
  306000
 GRCh37/hg19
 Deletion
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  nord_11_ASD_discovery_controls-04C27090
 
 
  Control
 
 
  57660847
  57942005
  281159
 
  Deletion
 
  sanders_11_ASD_discovery_controls-11488.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  58272829
  58275096
  2267
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11962.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  58272829
  58275096
  2267
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5
  F
  Control (matched sibling)
  NA
  NA
  59072338
  59095730
  23392
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12220.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  59072338
  59095730
  23392
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12867.s1
  18
  M
  Control (matched sibling)
  NA
  NA
  58272829
  58275096
  2267
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19
  F
  Control (matched sibling)
  NA
  NA
  59082048
  59095730
  13682
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19
  F
  Control (matched sibling)
  NA
  NA
  58174147
  58773984
  599837
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-13183.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  59082048
  59095730
  13682
  hg18
  Deletion
  No
  girirajan_13a_ASD_discovery_controls2-control20
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  hg18
  Deletion
  No
  girirajan_13a_ASD_discovery_controls2-control21
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902573_902573
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57866587
  57971095
  104508
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900416_900416
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57861818
  57971095
  109277
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB732969_0067942655
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57821374
  57950344
  128970
  hg18
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11322.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11488.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11542.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11818.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12201.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12220.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12225.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12287.p1
 
 
 Both parents
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12445.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12628.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DIAPH3
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13166.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13233.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 DIAPH3
 
 lesca_12_EP_discovery_cases-caseDX94
 qPCR
 
 Unknown
 Unknown
 Unknown
 DIAPH3
 
 girirajan_13a_ASD_discovery_cases-12628.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 DIAPH3
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-301
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 TDRD3
 
 chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4324
 Nimblegen aCGH
 
 Unknown
 Unknown
 Unknown
 DIAPH3,TDRD3
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000006
 
 
 De novo
 Unknown
 Unknown
 DIAPH3
 
 engchuan_15_ASD_discovery_cases-case13017_223
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14096_1660
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case14310_4270
 
 
 Unknown
 
 
 DIAPH3
 
 engchuan_15_ASD_discovery_cases-case14339_4530
 
 
 Unknown
 
 
 DIAPH3
 
 engchuan_15_ASD_discovery_cases-case3049_3
 
 
 Unknown
 
 
 0 genes
 
 moreira_16_ASD_discovery_cases-case3
 aCGH, array SNP, and/or MLPA
 
 Paternal
 Unknown
 
 DIAPH3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C27090
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11488.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11962.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12220.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12867.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13183.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
girirajan_13a_ASD_discovery_controls2-control20
 
 
  Unknown
 
 
  DIAPH3
 
girirajan_13a_ASD_discovery_controls2-control21
 
 
  Unknown
 
 
  DIAPH3
 
engchuan_15_ASD_discovery_controls-controlHABC_902573_902573
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900416_900416
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB732969_0067942655
 
 
  Unknown
 
 
  0 genes
 

No Animal Model Data Available
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