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9q21.32CNV Type: Deletion-Duplication


Largest CNV size: 97613 bp

Statistics Box:
Number of Reports: 5


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 142
 1
 1
 2
 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
 
 
 97613
 1
 0
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 65497
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 17108
 1
 1
 2
 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
 9116
 35
 0
 35

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 188889
 1
 0
 1
 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
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 488848
 0
 1
 1
 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)
 17108
 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.
 
 9116
 23
 0
 23

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 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, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  celestino-soper_11_ASD_discovery_cases-11411
 NA
 M
 ASD
 NA
 NA
 83677846
 83677988
  143
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11469
 NA
 M
 ASD
 NA
 NA
 83677846
 83677988
  143
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-NA0147-000
 NA
 M
 ASD
 NA
 NA
 85112591
 85210203
  97613
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case98HI0266B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017504; NDAR ID NDAR_INVWK082CR2)
 
 83850097
 83915593
  65497
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case115737L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 84163249
 84179794
  16546
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case44307
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 85695678
 85712785
  17108
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11074.p1
 9.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 75; verbal IQ, 58
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11134.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11194.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 88; verbal IQ, 98
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11227.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11247.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11363.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11425.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
 82760078
 82767105
  7028
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11453.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
 81655485
 81660180
  4696
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11456.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11466.p1
 9.2
 M
 Aspergers
 NA
 Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11843.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11911.p1
 9.9
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
 83588127
 83591428
  3302
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12019.p1
 9.1
 M
 ASD
 NA
 Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12076.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12144.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12202.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
 83588127
 83591428
  3302
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12233.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
 83588127
 83591428
  3302
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12414.p1
 4.4
 M
 ASD
 NA
 Full-scale IQ, 116; non-verbal IQ, 129; verbal IQ, 90
 84200794
 84204445
  3652
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12429.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 71; verbal IQ, 82
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12430.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
 83588127
 83591428
  3302
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12498.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 67; verbal IQ, 63
 83588127
 83591428
  3302
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12499.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12515.p1
 6.3
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12517.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 41; verbal IQ, 20
 81655485
 81660180
  4696
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12568.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12591.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12821.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 86
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12951.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 64; verbal IQ, 44
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13012.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 60; verbal IQ, 21
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13144.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 119; verbal IQ, 95
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13266.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13367.p1
 9.7
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
 82757989
 82767105
  9117
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlHABC_901003_901003
  N/A
  N/A
  Control
  No previous psychiatric history
 
  82952724
  83141613
  188890
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C31170A
  N/A
  F
  Control
  NIMH Control (NIMH ID 59702)
 
  83310483
  83799330
  488848
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11046.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  83588331
  83591428
  3098
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11247.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11456.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11484.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11498.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11676.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  81653963
  81660180
  6218
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11843.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11911.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  83588127
  83591428
  3302
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11935.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12030.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12073.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  81655485
  81660180
  4696
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12224.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  81655485
  81660180
  4696
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12233.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  83588127
  83591428
  3302
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12255.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12329.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12375.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  81655485
  81660180
  4696
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12444.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12499.s1
  9.4
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12901.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12951.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13144.s1
  4.9
  M
  Control (matched sibling)
  NA
  NA
  82757989
  82767105
  9117
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11411
 
 
 Unknown
 Simplex
 NA
 UBQLN1
 
 celestino-soper_11_ASD_discovery_cases-11469
 
 
 Unknown
 Simplex
 NA
 UBQLN1
 
 marshall_08_ASD_discovery_cases-NA0147-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 UBE2V1P10
 
 poultney_13_ASD_discovery_cases-case98HI0266B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 KIF27
 
 prasad_12_ASD_discovery_cases-case115737L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case44307
 
 
 Unknown
 Unknown
 Unknown
 KIF27
 
 sanders_11_ASD_discovery_cases-11074.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11194.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11227.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11247.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11363.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11425.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11453.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 TLE1
 
 sanders_11_ASD_discovery_cases-11456.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11466.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11843.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11911.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12019.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12076.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12144.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12202.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12233.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12414.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12429.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12430.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12498.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12499.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12515.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12517.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TLE1
 
 sanders_11_ASD_discovery_cases-12568.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12591.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12821.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12951.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13012.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13144.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13266.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13367.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_901003_901003
 
 
  Unknown
 
 
  RASEF
 
poultney_13_ASD_discovery_controls-control04C31170A
 
 
  Unknown
 
 
  RNU4-15P,UBQLN1,FRMD3,IDNK,GKAP1
 
sanders_11_ASD_discovery_controls-11046.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11247.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11456.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11484.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11498.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11676.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TLE1
 
sanders_11_ASD_discovery_controls-11843.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11911.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11935.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12030.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12073.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TLE1
 
sanders_11_ASD_discovery_controls-12224.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TLE1
 
sanders_11_ASD_discovery_controls-12233.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12255.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12329.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12375.s1
 
 
  Unknown
  Simplex (quad)
  NA
  TLE1
 
sanders_11_ASD_discovery_controls-12444.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12499.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12901.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12951.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13144.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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