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4q24CNV Type: Deletion-Duplication


Largest CNV size: 212926 bp

Statistics Box:
Number of Reports: 12


Summary Information

Summary statement in development

Additional Locus Information

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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
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
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
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 58
 1
 0
 1
 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
 27945
 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
 169909
 3
 3
 6
 hnoonual_17_ASD_discovery_cases
 Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
 114
 68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
 Range, 1-18 years (at time of recruitment)
 79.82% Male
 97000
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 155751
 1
 1
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 35034
 0
 1
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 508432
 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
 46837
 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
 212926
 30
 5
 35
 stobbe_13_ASD_discovery_cases
 Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
 36
 Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
 Range, 18-45 yrs. (mean 25.3 yrs.)
 77.78% Male
 360000
 0
 1
 1
 yingjun_17_ASD_discovery_cases
 ASD probands referred to the Clinical Genetics Service for genetic testing
 64
 Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 N/A
 N/A
 369331
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 82917
 1
 0
 1

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
 204874
 10
 3
 13
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 155751
 1
 0
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 35034
 0
 1
 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)
 116120
 0
 3
 3
 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)
 46837
 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.
 
 272490
 22
 3
 25
 sherman_21_ASD_discovery_controls
  NA NA
 Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
 5500
 Control (unaffected siblings of ASD probands)
 Range, 3-18 yrs.
 NA
 1118467
 0
 1
 1
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 82917
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 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
 hnoonual_17_ASD_discovery_cases
  Thai
 Solid phase hybridization
  Illumina Infinium CytoSNP-850K v1.1 BeadChip
 
 BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 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
 
 
 stobbe_13_ASD_discovery_cases
  N/A
 aCGH
  NimbleGen CGX-3v1.0
 ADM-1
 NimbleScan 2.5, DNA Analytics 4.0
 None
 yingjun_17_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS
 N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
 
 
  sherman_21_ASD_discovery_controls
  NA
  Solid phase hybridization
  Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
 
  MoChA
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_cases-caseSSC05463
 N/A
 M
 ASD
 Case from SSC cohort
 
 102366016
 102366074
  59
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11303
 NA
 M
 ASD
 NA
 NA
 105396261
 105424206
  27946
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13072_853
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 106367292
 106473819
  106528
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14236_2610
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103279072
 103323974
  44903
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2165_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 101392717
 101562626
  169910
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3192_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 105544971
 105577615
  32645
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3505_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103281432
 103323974
  42543
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4460_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 104302835
 104361513
  58679
 GRCh38
 Duplication
 No
  hnoonual_17_ASD_discovery_cases-caseTM13-3
 N/A
 M
 ASD
 Macrocephaly
 
 102639806
 102737193
  97388
 GRCh38
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11310.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 101917992
 102073743
  155752
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12619.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 102043838
 102073743
  29906
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11707.p1
 NA
 M
 ASD
 NA
 NA
 105621882
 105656915
  35034
 GRCh38
 Duplication
 No
  mosca_16_DCD_discovery_cases-case103303
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 103430081
 103938512
  508432
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case146437L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 105025726
 105072562
  46837
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11066.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ 86
 106171012
 106178580
  7569
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11073.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 103281432
 103329167
  47736
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11086.p1
 7.4
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 103281432
 103337239
  55808
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11090.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
 104809610
 104819007
  9398
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11131.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
 103820158
 103839885
  19728
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11187.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 115; verbal IQ, 108
 103820158
 103839885
  19728
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11262.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
 101797638
 101804938
  7301
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11297.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
 103820158
 103839885
  19728
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11298.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 141; non-verbal IQ, 132; verbal IQ, 143
 106602743
 106716005
  113263
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11301.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
 106171012
 106177974
  6963
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11310.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 97; verbal IQ, 63
 101910128
 102123054
  212927
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11381.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
 104268829
 104436571
  167743
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11551.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
 103820158
 103839885
  19728
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11659.p1
 6.4
 F
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
 106683178
 106687630
  4453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11707.p1
 13.5
 M
 Autism
 NA
 Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
 105622687
 105651299
  28613
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11718.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
 106683178
 106687630
  4453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11922.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
 106683178
 106687630
  4453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12003.p1
 4.3
 M
 ASD
 NA
 Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
 106683178
 106687630
  4453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12083.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
 106683178
 106687630
  4453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12158.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
 102925641
 102948934
  23294
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12162.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
 103820158
 103842755
  22598
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12210.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
 106683178
 106687630
  4453
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12220.p1
 14.4
 F
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
 103281432
 103337239
  55808
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12297.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
 101797638
 101804938
  7301
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12312.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
 106683178
 106687630
  4453
 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
 103820158
 103839885
  19728
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12395.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
 103820158
 103839885
  19728
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12462.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
 101587400
 101593976
  6577
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12505.p1
 5.3
 M
 ASD
 NA
 Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
 106171012
 106177974
  6963
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12619.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
 102040723
 102223733
  183011
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 101473929
 101495151
  21223
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12836.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
 101797638
 101804938
  7301
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12878.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
 103820158
 103842792
  22635
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12937.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 103281432
 103337239
  55808
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6.7
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 103281432
 103323974
  42543
 GRCh38
 Deletion
 No
  stobbe_13_ASD_discovery_cases-case4
 22 yrs.
 F
 Asperger syndrome and depression
 Epicanthal folds, tapered fingers. Negative family history. Karyotype: not performed. Fragile X testing: normal.
 
 105235068
 105594744
  359677
 GRCh38
 Duplication
 No
  yingjun_17_ASD_discovery_cases-case7824
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
 
 106113899
 106483230
  369332
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case205
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 101652785
 101735701
  82917
 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-control110036024487_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  106367292
  106467725
  100434
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB114549_1007853874
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103279072
  103323974
  44903
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB806145_1007873615
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103279072
  103323974
  44903
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB996895_1007855015
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103279072
  103323974
  44903
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900090_900090
  N/A
  N/A
  Control
  No previous psychiatric history
 
  105235030
  105372023
  136994
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900286_900286
  N/A
  N/A
  Control
  No previous psychiatric history
 
  105544971
  105581356
  36386
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900387_900387
  N/A
  N/A
  Control
  No previous psychiatric history
 
  106251522
  106291809
  40288
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900453_900453
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103820158
  103868550
  48393
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900997_900997
  N/A
  N/A
  Control
  No previous psychiatric history
 
  105544971
  105577615
  32645
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901099_901099
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103820158
  103863422
  43265
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901152_901152
  N/A
  N/A
  Control
  No previous psychiatric history
 
  101910128
  102115002
  204875
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902559_902559
  N/A
  N/A
  Control
  No previous psychiatric history
 
  103281432
  103323974
  42543
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902732_902732
  N/A
  N/A
  Control
  No previous psychiatric history
 
  106363410
  106473819
  110410
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11310.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  101917992
  102073743
  155752
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-11707.s1
  NA
  F
  Control
  NA
  NA
  105621882
  105656915
  35034
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C42628A
  N/A
  M
  Control
  NIMH Control (NIMH ID 34873)
 
  103589680
  103658405
  68726
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C43571
  N/A
  M
  Control
  NIMH Control (NIMH ID 20523)
 
  106325008
  106347694
  22687
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C45724
  N/A
  F
  Control
  NIMH Control (NIMH ID 98250)
 
  105613382
  105729501
  116120
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11073.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  103279072
  103337239
  58168
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11141.s1
  5.2
  F
  Control (matched sibling)
  NA
  NA
  102843999
  102986881
  142883
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11144.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  105544971
  105585087
  40117
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11187.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  103820158
  103842755
  22598
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11310.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  101910128
  102138523
  228396
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11381.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  104268829
  104436571
  167743
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11422.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  103820158
  103839885
  19728
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11659.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  106683178
  106687630
  4453
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11707.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  105622687
  105651299
  28613
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11718.s1
  23.6
  F
  Control (matched sibling)
  NA
  NA
  106683178
  106687630
  4453
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  103279072
  103323974
  44903
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12157.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  103820158
  103842755
  22598
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12238.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  103820158
  103839885
  19728
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12257.s1
  4.6
  M
  Control (matched sibling)
  NA
  NA
  103820158
  103839885
  19728
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12303.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  103820158
  103839885
  19728
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12626.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  106683178
  106687630
  4453
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12661.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  103281432
  103323974
  42543
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12836.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  101797638
  101804938
  7301
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  103735913
  103903959
  168047
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12888.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  101733663
  102006153
  272491
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12937.s1
  18.9
  M
  Control (matched sibling)
  NA
  NA
  103281432
  103333060
  51629
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12989.s1
  11.4
  F
  Control (matched sibling)
  NA
  NA
  105326605
  105335364
  8760
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13051.s1
  9.4
  F
  Control (matched sibling)
  NA
  NA
  103820158
  103839885
  19728
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  103281432
  103333060
  51629
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13097.s1
  12.4
  F
  Control (matched sibling)
  NA
  NA
  103281432
  103333060
  51629
  GRCh38
  Deletion
  No
  sherman_21_ASD_discovery_controls-SSC_13391.s1
  NA
  F
  Control
  Unaffected sibling from the Simons Simplex Collection. SCQ summary score: 0. Mosaic cell fraction: 0.2235. CNV occurs on the maternal haplotype.
 
  105469576
  106588042
  1118467
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseSSC05463
 PCR
 
 De novo
 
 
 SLC39A8
 
 celestino-soper_11_ASD_discovery_cases-11303
 
 
 Unknown
 Simplex
 NA
 RNU6-553P,PPA2
 
 engchuan_15_ASD_discovery_cases-case13072_853
 
 
 Unknown
 
 
 GIMD1,LINC02173
 
 engchuan_15_ASD_discovery_cases-case14236_2610
 
 
 Unknown
 
 
 LINC02428
 
 engchuan_15_ASD_discovery_cases-case2165_1
 
 
 Unknown
 
 
 BANK1
 
 engchuan_15_ASD_discovery_cases-case3192_3
 
 
 Unknown
 
 
 ARHGEF38-IT1,ARHGEF38
 
 engchuan_15_ASD_discovery_cases-case3505_3
 
 
 Unknown
 
 
 LINC02428
 
 engchuan_15_ASD_discovery_cases-case4460_1
 
 
 Unknown
 
 
 
 
 hnoonual_17_ASD_discovery_cases-caseTM13-3
 
 
 Paternal
 
 
 KRT8P46,LRRC37A15P,MANBA
 
 krumm_15_ASD_discovery_cases-case11310.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MTND5P5,BANK1
 
 krumm_15_ASD_discovery_cases-case12619.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 BANK1
 
 levy_11_ASD_discovery_cases-11707.p1
 
 
 Maternal
 Simplex
 Not segregated
 ARHGEF38
 
 mosca_16_DCD_discovery_cases-case103303
 
 
 Unknown
 Unknown
 Unknown
 DDX3P3,RNU6-635P,LINC02428,TACR3
 
 prasad_12_ASD_discovery_cases-case146437L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11066.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 TBCK
 
 sanders_11_ASD_discovery_cases-11073.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02428
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02428
 
 sanders_11_ASD_discovery_cases-11090.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11131.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11187.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11262.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 BANK1
 
 sanders_11_ASD_discovery_cases-11297.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11298.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11301.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TBCK
 
 sanders_11_ASD_discovery_cases-11310.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MTND5P5,BANK1
 
 sanders_11_ASD_discovery_cases-11381.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11551.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11659.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11707.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 ARHGEF38
 
 sanders_11_ASD_discovery_cases-11718.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11922.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12003.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12083.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12158.p1
 
 
 Both parents
 Simplex (trio)
 NA
 SLC9B1
 
 sanders_11_ASD_discovery_cases-12162.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12210.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12220.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02428
 
 sanders_11_ASD_discovery_cases-12297.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 BANK1
 
 sanders_11_ASD_discovery_cases-12312.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12339.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12395.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12462.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 BANK1
 
 sanders_11_ASD_discovery_cases-12505.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TBCK
 
 sanders_11_ASD_discovery_cases-12619.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 BANK1
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 BANK1
 
 sanders_11_ASD_discovery_cases-12836.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 BANK1
 
 sanders_11_ASD_discovery_cases-12878.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12937.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02428
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02428
 
 stobbe_13_ASD_discovery_cases-case4
 
 
 Unknown
 Unknown (possible simplex)
 Unknown
 RN7SL89P,RNU6-553P,EEF1A1P9,ATP5F1EP1,ARHGEF38-IT1,TET2,PPA2,ARHGEF38
 
 yingjun_17_ASD_discovery_cases-case7824
 N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
 
 Unknown
 Unknown
 Unknown
 AIMP1,GIMD1,LINC02173,TBCK
 
 yin_16_ASD_discovery_cases-case205
 
 
 Unknown
 Unknown
 Unknown
 RNU6-462P,BANK1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036024487_
 
 
  Unknown
 
 
  GIMD1,LINC02173
 
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
 
 
  Unknown
 
 
  LINC02428
 
engchuan_15_ASD_discovery_controls-controlB806145_1007873615
 
 
  Unknown
 
 
  LINC02428
 
engchuan_15_ASD_discovery_controls-controlB996895_1007855015
 
 
  Unknown
 
 
  LINC02428
 
engchuan_15_ASD_discovery_controls-controlHABC_900090_900090
 
 
  Unknown
 
 
  RN7SL89P,TET2,PPA2
 
engchuan_15_ASD_discovery_controls-controlHABC_900286_900286
 
 
  Unknown
 
 
  ARHGEF38-IT1,ARHGEF38
 
engchuan_15_ASD_discovery_controls-controlHABC_900387_900387
 
 
  Unknown
 
 
  TBCK
 
engchuan_15_ASD_discovery_controls-controlHABC_900453_900453
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900997_900997
 
 
  Unknown
 
 
  ARHGEF38-IT1,ARHGEF38
 
engchuan_15_ASD_discovery_controls-controlHABC_901099_901099
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901152_901152
 
 
  Unknown
 
 
  MTND5P5,BANK1
 
engchuan_15_ASD_discovery_controls-controlHABC_902559_902559
 
 
  Unknown
 
 
  LINC02428
 
engchuan_15_ASD_discovery_controls-controlHABC_902732_902732
 
 
  Unknown
 
 
  GIMD1,LINC02173
 
krumm_15_ASD_discovery_controls-control11310.s1
  Illumina 1M
 
  Paternal
 
 
  MTND5P5,BANK1
 
levy_11_ASD_discovery_controls-11707.s1
 
 
  Maternal
  Simplex
  NA
  ARHGEF38
 
poultney_13_ASD_discovery_controls-control05C42628A
 
 
  Unknown
 
 
  TACR3
 
poultney_13_ASD_discovery_controls-control05C43571
 
 
  Unknown
 
 
  AIMP1
 
poultney_13_ASD_discovery_controls-control05C45724
 
 
  Unknown
 
 
  ARHGEF38,INTS12,GSTCD
 
sanders_11_ASD_discovery_controls-11073.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02428
 
sanders_11_ASD_discovery_controls-11141.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PABPC1P7,ACTR3BP4,UBE2D3,CISD2,SLC9B1
 
sanders_11_ASD_discovery_controls-11144.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ARHGEF38-IT1,ARHGEF38
 
sanders_11_ASD_discovery_controls-11187.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11310.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MTND5P5,BANK1
 
sanders_11_ASD_discovery_controls-11381.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11422.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11659.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11707.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ARHGEF38
 
sanders_11_ASD_discovery_controls-11718.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02428
 
sanders_11_ASD_discovery_controls-12157.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12238.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12257.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12303.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12626.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12661.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02428
 
sanders_11_ASD_discovery_controls-12836.s1
 
 
  Paternal
  Simplex (quad)
  NA
  BANK1
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12888.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MTND5P5,BANK1
 
sanders_11_ASD_discovery_controls-12937.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02428
 
sanders_11_ASD_discovery_controls-12989.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13051.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02428
 
sanders_11_ASD_discovery_controls-13097.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC02428
 
sherman_21_ASD_discovery_controls-SSC_13391.s1
 
 
 
 
 
  PPA2,ARHGEF38,INTS12,GSTCD,TBCK,NPNT,PIMREGP2,EEF1A1P9,GIMD1,ARHGEF38-IT1,GSTCD-AS1,LINC02173,AIMP1,ATP5F1EP1
 

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