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12q24.32CNV Type: Deletion-Duplication


Largest CNV size: 311000 bp

Statistics Box:
Number of Reports: 10


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.
Duplication
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 335093
 2
 9
 11
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 75334
 0
 1
 1
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 0
 1
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 1175087
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 121323
 0
 1
 1
 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
 
 
 311000
 0
 1
 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
 309143
 1
 2
 3
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 1089367
 0
 1
 1
 salyakina_11_ASD_discovery_cases
 ASD patients from extended ASD families (defined as families with at least two affected cousins)
 97
 ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
 Range, 3-21 yrs.
 
 6156
 2
 0
 2
 salyakina_11_nonASD_discovery_cases
 Individuals from extended ASD families with ASD symptoms/autistic features, but who did not meet full criteria for ASD diagnosis
 NA
 Diagnosed with ASD symptoms, but did not meet full criteria for ASD diagnosis
 
 
 6156
 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
 124404
 50
 6
 56

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
 469169
 1
 20
 21
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1175087
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 16779
 1
 1
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 121323
 0
 1
 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
 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)
 309143
 0
 0
 0
 salyakina_11_ASD_discovery_controls
 Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
 838
 Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
 
 
 6156
 5
 0
 5
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 751700
 44
 5
 49

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 salyakina_11_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
 PennCNV
 BeadStudio v3
 qPCR
 salyakina_11_nonASD_discovery_cases
 
 Solid phase hybridization
  Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
 PennCNV
 BeadStudio v3
 qPCR
 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
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  salyakina_11_ASD_discovery_controls
  727 Caucasian, 111 African-American
 
 
 
 
 
  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
  engchuan_15_ASD_discovery_cases-case13099_1163
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 127024086
 127106075
  81990
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13231_2573
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 128742228
 128782279
  40052
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20159_4009001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 127053360
 127109569
  56210
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2285_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 128742228
 128782279
  40052
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3456_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 128742228
 128782279
  40052
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4139_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 128742228
 128782279
  40052
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4307_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 128835633
 129055401
  219769
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4468_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 129281027
 129311849
  30823
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6045_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 128817710
 129152803
  335094
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6240_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 128742228
 128781951
  39724
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8567_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 126154522
 126317504
  162983
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU011504
 
 
 Autism
 
 
 127783966
 127859299
  75334
 Unknown
 Duplication
 No
  gannon_11_ASD/DD_discovery_cases-patientM
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Duplication
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case29386
 1 yr.
 M
 Developmental delay
 Family history: father had developmental delay and learning disability; mother has dyslexia and memory problems, but was cognitively normal. All other measure not specified.
 Developmental delay
 127747591
 128922678
  1175088
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-12086.p1
 NA
 M
 ASD
 NA
 NA
 129451627
 129572949
  121323
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-MM0210-004
 NA
 M
 ASD
 NA
 NA
 126436574
 126747574
  311001
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case115731L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 125304263
 125327220
  22958
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case47376
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 125489394
 125798536
  309143
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case96087L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 127426986
 127446615
  19630
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_153
 4 yrs.
 F
 ASD and intellectual disability
 ASD, dysmorphic facial features
 Intellectual disability
 127327964
 128417330
  1089367
 GRCh38
 Duplication
 No
  salyakina_11_ASD_discovery_cases-17678_001
 
 M
 Autism
 
 
 126824507
 126830663
  6157
 GRCh38
 Deletion
 Yes
  salyakina_11_ASD_discovery_cases-17678_107
 
 M
 Asperger
 ADHD symptoms
 
 126824507
 126830663
  6157
 GRCh38
 Deletion
 Yes
  salyakina_11_nonASD_discovery_cases-17678_1009
 
 M
 Autistic features
 ASD symptoms. Parent of one autistic child.
 
 126824507
 126830663
  6157
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11006.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
 126509789
 126520258
  10470
 GRCh38
 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
 128742228
 128777595
  35368
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11056.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62
 126510367
 126520258
  9892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11069.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
 128742228
 128780293
  38066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13.9
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 128745968
 128747882
  1915
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11114.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 128746531
 128748468
  1938
 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
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11218.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
 126513638
 126528461
  14824
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11220.p1
 12.1
 F
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11223.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11225.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11270.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
 126510367
 126520258
  9892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11275.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11329.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 128744329
 128748468
  4140
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11331.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
 129002394
 129028317
  25924
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11336.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11336.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
 126824507
 126830663
  6157
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11343.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11353.p1
 5.3
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64
 126824507
 126832949
  8443
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11414.p1
 12.7
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 83; verbal IQ, 80
 126506061
 126520258
  14198
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11424.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 97; verbal IQ, 90
 126511895
 126520258
  8364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11450.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
 126499155
 126520258
  21104
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11495.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11502.p1
 16.1
 F
 Autism
 NA
 Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11510.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11536.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11569.p1
 9.1
 F
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11731.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
 126506061
 126520258
  14198
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11800.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 126510367
 126520258
  9892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11806.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
 127003891
 127008974
  5084
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11809.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91
 126510367
 126520258
  9892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11863.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
 126506061
 126520258
  14198
 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
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12031.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
 126824507
 126830663
  6157
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12046.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12066.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
 126511895
 126520258
  8364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12086.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 108; verbal IQ, 131
 129451188
 129575592
  124405
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12185.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
 126511895
 126520258
  8364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12241.p1
 4.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12264.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
 126510367
 126520258
  9892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12299.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12301.p1
 13.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12339.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
 126511895
 126520258
  8364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12367.p1
 9.4
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
 129096106
 129101182
  5077
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12404.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
 128742228
 128780293
  38066
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12541.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 133; verbal IQ, 108
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12561.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
 126511895
 126520258
  8364
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12742.p1
 4.8
 M
 ASD
 NA
 Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12899.p1
 12
 M
 ASD
 NA
 Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 87
 126824507
 126830663
  6157
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12907.p1
 13.8
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108
 128742228
 128782279
  40052
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 128745968
 128748468
  2501
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13033.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
 126510367
 126520258
  9892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13072.p1
 15.5
 F
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
 126510367
 126520258
  9892
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 126506061
 126520258
  14198
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13303.p1
 5.6
 F
 ASD
 NA
 Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
 126509789
 126520258
  10470
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13388.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 81; verbal IQ, 113
 128745968
 128748468
  2501
 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-control110036017911_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036022796_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126441564
  126746140
  304577
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036024685_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  127711586
  127782569
  70984
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB191910_1007853321
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126412072
  126778026
  365955
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB326195_1007874649
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB640901_1007854138
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB700840_1007874691
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB764282_1007872174
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB791991_1007852595
  N/A
  N/A
  Control
  No previous psychiatric history
 
  126509789
  126544407
  34619
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB832059_1007874686
  N/A
  N/A
  Control
  No previous psychiatric history
 
  129045822
  129151075
  105254
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB917428_1007845364
  N/A
  N/A
  Control
  No previous psychiatric history
 
  127408122
  127480005
  71884
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB931866_1007873677
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB995629_1007855005
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128783578
  41351
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900225_900225
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900345_900345
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900377_900377
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128783257
  41030
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900426_900426
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900964_900964
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128764172
  128794719
  30548
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901027_901027
  N/A
  N/A
  Control
  No previous psychiatric history
 
  127100802
  127569971
  469170
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901259_901259
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902542_902542
  N/A
  N/A
  Control
  No previous psychiatric history
 
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1592
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  127490054
  127493519
  3466
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split824
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  126802050
  126818828
  16779
  Unknown
  Duplication
  No
  levy_11_ASD_discovery_controls-12086.s1
  NA
  M
  Control
  NA
  NA
  129451627
  129572949
  121323
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11046.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11064.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  128744329
  128748468
  4140
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11069.s1
  7.4
  F
  Control (matched sibling)
  NA
  NA
  128742228
  128782279
  40052
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11073.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  127003891
  127008974
  5084
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11118.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  126087594
  126121940
  34347
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11124.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11148.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11190.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  128744329
  128748468
  4140
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11218.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  126513638
  126528461
  14824
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11270.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  126511895
  126520258
  8364
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11275.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  126509789
  126520258
  10470
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11300.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  128746531
  128747882
  1352
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11301.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  126824507
  126832949
  8443
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11303.s1
  4.5
  M
  Control (matched sibling)
  NA
  NA
  128446776
  128451173
  4398
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11336.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  126824507
  126830663
  6157
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11348.s1
  9.2
  F
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11397.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  127003891
  127008974
  5084
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11414.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  126509789
  126520258
  10470
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11429.s1
  18.6
  M
  Control (matched sibling)
  NA
  NA
  126506061
  126520258
  14198
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11437.s1
  18.4
  M
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  128745968
  128747882
  1915
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11450.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  126509789
  126520258
  10470
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11490.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11495.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11510.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  128745968
  128747882
  1915
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11530.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11569.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11581.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  126511895
  126532356
  20462
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11654.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  126511895
  126520258
  8364
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11665.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  126511895
  126520258
  8364
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11676.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11700.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  126506061
  126520258
  14198
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11768.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  127907815
  127911232
  3418
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11797.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  126509789
  126526181
  16393
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11857.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  128746531
  128748468
  1938
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11883.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12053.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  126510367
  126520258
  9892
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12086.s1
  25.2
  M
  Control (matched sibling)
  NA
  NA
  129451188
  129577687
  126500
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12289.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  128742228
  128781951
  39724
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12497.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  127109569
  127114619
  5051
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12524.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  127525055
  128276755
  751701
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12602.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  126511895
  126520258
  8364
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12619.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  128126688
  128128472
  1785
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12865.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  126824507
  126830663
  6157
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13153.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  128746531
  128747882
  1352
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13171.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  128745968
  128748468
  2501
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13193.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  126511895
  126520258
  8364
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13216.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  126510367
  126520258
  9892
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13251.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  126510367
  126520258
  9892
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case13099_1163
 
 
 Unknown
 
 
 LINC02405
 
 engchuan_15_ASD_discovery_cases-case13231_2573
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case20159_4009001
 
 
 Unknown
 
 
 LINC02405
 
 engchuan_15_ASD_discovery_cases-case2285_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3456_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4139_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4307_1
 
 
 Unknown
 
 
 NLRP9P1,GLT1D1
 
 engchuan_15_ASD_discovery_cases-case4468_1
 
 
 Unknown
 
 
 TMEM132D
 
 engchuan_15_ASD_discovery_cases-case6045_3
 
 
 Unknown
 
 
 NLRP9P1,TMEM132D-AS1,SLC15A4,TMEM132D,GLT1D1
 
 engchuan_15_ASD_discovery_cases-case6240_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8567_201
 
 
 Unknown
 
 
 LINC02359
 
 gai_11_ASD_replication_cases-AU011504
 
 
 Inherited
 
 
 SLC15A4
 
 gannon_11_ASD/DD_discovery_cases-patientM
 
 
 Unknown
 Unknown
 
 NA
 
 girirajan_12_ASD/DD/ID_discovery_cases-case29386
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 LINC02368,MIR3612,LINC02393,LINC00508,LINC02441,LINC02369,SLC15A4,TMEM132C,LINC00507,GLT1D1
 
 levy_11_ASD_discovery_cases-12086.p1
 
 
 Paternal
 Simplex
 Not segregated
 TMEM132D
 
 marshall_08_ASD_discovery_cases-MM0210-004
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 NDUFA5P6,LINC02347,LINC00943,LINC00944
 
 prasad_12_ASD_discovery_cases-case115731L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case47376
 
 
 Unknown
 Unknown
 Unknown
 LOC100128554,LOC387895,LOC100507206
 
 prasad_12_ASD_discovery_cases-case96087L
 
 
 Unknown
 Unknown
 Unknown
 TMEM132C
 
 quintela_17_DD/ID_discovery_cases-caseID_153
 
 
 Unknown
 
 Unknown
 LINC02368,MIR3612,LINC02375,LINC02411,LINC02393,LINC00508,LINC02441,LINC02369,TMEM132C,LINC00507
 
 salyakina_11_ASD_discovery_cases-17678_001
 qPCR
 
 Maternal
 Simplex
 Segregated
 
 
 salyakina_11_ASD_discovery_cases-17678_107
 qPCR
 
 Paternal
 Simplex
 Not segregated
 
 
 salyakina_11_nonASD_discovery_cases-17678_1009
 qPCR
 
 Unknown (possibly paternal)
 Simplex
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11006.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11006.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11056.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11069.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11114.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11203.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11218.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NDUFA5P6
 
 sanders_11_ASD_discovery_cases-11220.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11223.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11225.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11270.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11275.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11329.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11331.p1
 
 
 Paternal
 Simplex (trio)
 NA
 NLRP9P1
 
 sanders_11_ASD_discovery_cases-11336.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11336.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11343.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11353.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11414.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11424.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11450.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11495.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11502.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11510.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11536.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11569.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11731.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11800.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11806.p1
 
 
 Maternal
 Simplex (trio)
 NA
 LINC02405
 
 sanders_11_ASD_discovery_cases-11809.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11863.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12019.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12031.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12066.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12086.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TMEM132D
 
 sanders_11_ASD_discovery_cases-12185.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12241.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12264.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12299.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12301.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12339.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12367.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TMEM132D
 
 sanders_11_ASD_discovery_cases-12404.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12541.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12561.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12742.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12899.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12907.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12944.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13033.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13072.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13303.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13388.p1
 
 
 Unknown
 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-control110036017911_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036022796_
 
 
  Unknown
 
 
  NDUFA5P6,LINC02347,LINC00943,LINC00944
 
engchuan_15_ASD_discovery_controls-control110036024685_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB191910_1007853321
 
 
  Unknown
 
 
  NDUFA5P6,LINC02347,LINC00943,LINC00944
 
engchuan_15_ASD_discovery_controls-controlB326195_1007874649
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB640901_1007854138
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB700840_1007874691
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB764282_1007872174
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB791991_1007852595
 
 
  Unknown
 
 
  NDUFA5P6
 
engchuan_15_ASD_discovery_controls-controlB832059_1007874686
 
 
  Unknown
 
 
  TMEM132D-AS1,TMEM132D
 
engchuan_15_ASD_discovery_controls-controlB917428_1007845364
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB931866_1007873677
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB995629_1007855005
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900225_900225
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900345_900345
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900377_900377
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900426_900426
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900964_900964
 
 
  Unknown
 
 
  SLC15A4
 
engchuan_15_ASD_discovery_controls-controlHABC_901027_901027
 
 
  Unknown
 
 
  LINC02376,RNU1-104P,LINC02375
 
engchuan_15_ASD_discovery_controls-controlHABC_901259_901259
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902542_902542
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split1592
 
 
  Unknown
 
 
  LOC101927592 (non-coding RNA, intronic)
 
kanduri_15_ASD_discovery_controls-control_split824
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, LINC00939(dist=334130),LOC100128554(dist=108199)
 
levy_11_ASD_discovery_controls-12086.s1
 
 
  Paternal
  Simplex
  NA
  TMEM132D
 
sanders_11_ASD_discovery_controls-11046.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11064.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11069.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11073.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC02405
 
sanders_11_ASD_discovery_controls-11118.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC02359
 
sanders_11_ASD_discovery_controls-11124.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11148.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11190.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11218.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P6
 
sanders_11_ASD_discovery_controls-11270.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11275.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11300.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11301.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11303.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMEM132C
 
sanders_11_ASD_discovery_controls-11336.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11348.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11397.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02405
 
sanders_11_ASD_discovery_controls-11414.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11429.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11437.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11450.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11490.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11495.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11510.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11530.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11569.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11581.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NDUFA5P6
 
sanders_11_ASD_discovery_controls-11654.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11665.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11676.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11700.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11768.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11797.s1
 
 
  Both parents
  Simplex (quad)
  NA
  NDUFA5P6
 
sanders_11_ASD_discovery_controls-11857.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11883.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12053.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12086.s1
 
 
  Paternal
  Simplex (quad)
  NA
  TMEM132D
 
sanders_11_ASD_discovery_controls-12289.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12497.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12524.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02368,LINC02411,LINC02393,LINC00508,LINC02441,LINC02369,TMEM132C,LINC00507
 
sanders_11_ASD_discovery_controls-12602.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12619.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12865.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13153.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13171.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13193.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13216.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13251.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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