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9q33.3CNV Type: Deletion-Duplication


Largest CNV size: 106219 bp

Statistics Box:
Number of Reports: 6



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
Excess of rare, inherited truncating mutations in autism.
Deletion-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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication

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
 259
 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
 66627
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 36637
 1
 1
 2
 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
 27821
 2
 0
 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
 106219
 27
 0
 27
 schmid_23_DD/ID_discovery_cases
 Individual with a 9q33.3 microdeletion affecting the LHX2 gene from an initial cohort of 19 individuals from 18 families with LHX2 variants identified through international collaboration.
 1
 Case presented with developmental delay (DD) and intellectual disability (ID).
 NA
 Female
 171985
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 10509
 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
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 4822
 1
 0
 1
 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)
 1373925
 2
 3
 5
 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)
 27821
 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.
 
 1263
 19
 0
 19

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
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 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
 
 
 schmid_23_DD/ID_discovery_cases
  NA
 CMA
  NA
 NA
 NA
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  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-11461
 NA
 M
 ASD
 NA
 NA
 126614447
 126614706
  260
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case17009_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 127352980
 127419607
  66628
 GRCh38
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11404.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 123362864
 123367686
  4823
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12969.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 125171084
 125207721
  36638
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case50611
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 127013897
 127030147
  16251
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85024
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 127000824
 127028644
  27821
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11006.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11030.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11099.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
 125596065
 125602622
  6558
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11200.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11203.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11241.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 77; verbal IQ, 80
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11256.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11324.p1
 11.4
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11620.p1
 16.5
 M
 ASD
 NA
 Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11665.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11781.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11851.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 92; verbal IQ, 121
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11855.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11893.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11931.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
 125737335
 125837002
  99668
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11948.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11972.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 125730783
 125837002
  106220
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12078.p1
 9.2
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12255.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12315.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12435.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
 124428061
 124443332
  15272
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12483.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12600.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12744.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12960.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13120.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
 126758516
 126759779
  1264
 GRCh38
 Deletion
 No
  schmid_23_DD/ID_discovery_cases-case1
 NA
 F
 Developmental delay and intellectual disability
 Birth/neonatal history: birth weight -1.5 SD, birth length -2 SD. Developmental milestones: speech delay (first words at 3 years). Dysmorphic features: large nose, thin upper lip, low-set ears.
 Mild intellectual disability
 123928083
 124100066
  171985
 GRCh38
 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
  brandler_18_ASD_discovery_controls-controlREACH000774
  N/A
  M
  Control
  Control from REACH cohort
 
  124934835
  124945344
  10510
  GRCh38
  Deletion
  Yes
  brandler_18_ASD_discovery_controls-controlSSC03038
  N/A
  F
  Control
  Control from SSC cohort
 
  123240162
  123241652
  1491
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11404.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  123362864
  123367686
  4823
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control04C31170A
  N/A
  F
  Control
  NIMH Control (NIMH ID 59702)
 
  127088937
  127353946
  265010
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C31170A
  N/A
  F
  Control
  NIMH Control (NIMH ID 59702)
 
  124861417
  124923225
  61809
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C34711A
  N/A
  F
  Control
  NIMH Control (NIMH ID 62547)
 
  127461171
  127497336
  36166
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C44280
  N/A
  M
  Control
  NIMH Control (NIMH ID 81186)
 
  127448335
  127449710
  1376
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C44621
  N/A
  M
  Control
  NIMH Control (NIMH ID 39000)
 
  125965829
  127339753
  1373925
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11142.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11241.s1
  11.9
  M
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11256.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11379.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11398.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11444.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11512.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11532.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11563.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11827.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11972.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12202.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12317.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12859.s1
  6.6
  M
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12907.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12975.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13018.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13153.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  126758516
  126759779
  1264
  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-11461
 
 
 Unknown
 Simplex
 NA
 LMX1B
 
 engchuan_15_ASD_discovery_cases-case17009_1
 
 
 Unknown
 
 
 GARNL3,SLC2A8
 
 krumm_15_ASD_discovery_cases-case11404.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CRB2
 
 krumm_15_ASD_discovery_cases-case12969.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 RPSAP76,RABEPK,PPP6C
 
 prasad_12_ASD_discovery_cases-case50611
 
 
 Unknown
 Unknown
 Unknown
 RABEPK
 
 prasad_12_ASD_discovery_cases-case85024
 
 
 Unknown
 Unknown
 Unknown
 RABEPK
 
 sanders_11_ASD_discovery_cases-11006.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11030.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11099.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 HNRNPA1P15,MAPKAP1
 
 sanders_11_ASD_discovery_cases-11200.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11203.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11241.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11256.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11324.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11620.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11665.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11781.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11851.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11855.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11893.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11931.p1
 
 
 Unknown
 Simplex (trio)
 NA
 PBX3
 
 sanders_11_ASD_discovery_cases-11948.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11972.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 PBX3
 
 sanders_11_ASD_discovery_cases-12078.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12255.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12315.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12435.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12483.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12600.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12744.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12960.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13120.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 schmid_23_DD/ID_discovery_cases-case1
 FISH
 
 Unknown (not maternal)
 Unknown
 
 DENND1A,LHX2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlREACH000774
  SNP VCF
 
  De novo
 
 
  GOLGA1,SCAI
 
brandler_18_ASD_discovery_controls-controlSSC03038
  Not available
 
  Unknown
 
 
  STRBP
 
krumm_15_ASD_discovery_controls-control11404.s1
  Illumina 1M
 
  Paternal
 
 
  CRB2
 
poultney_13_ASD_discovery_controls-control04C31170A
 
 
  Unknown
 
 
  ANGPTL2,RALGPS1,GARNL3
 
poultney_13_ASD_discovery_controls-control04C31170A
 
 
  Unknown
 
 
  RPL35,RNU4-82P,ARPC5L,GOLGA1
 
poultney_13_ASD_discovery_controls-control04C34711A
 
 
  Unknown
 
 
  LRSAM1
 
poultney_13_ASD_discovery_controls-control05C44280
 
 
  Unknown
 
 
  SNORA65,RPL12
 
poultney_13_ASD_discovery_controls-control05C44621
 
 
  Unknown
 
 
  NRON,ZBTB43,ANGPTL2,MVB12B,LMX1B,RALGPS1,GARNL3,ZBTB34,PBX3
 
sanders_11_ASD_discovery_controls-11142.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11241.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11256.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11379.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11398.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11444.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11512.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11532.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11563.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11827.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11972.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12202.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12317.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12859.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12907.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12975.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13018.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13153.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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