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4p15.2CNV Type: Deletion-Duplication


Largest CNV size: 408601 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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a 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
 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
 57952
 1
 0
 1
 egle_16_DD/ID_discovery_cases
 Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
 66
 All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
 N/A
 N/A
 2500000
 1
 0
 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
 80578
 0
 2
 2
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 20936
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 254000
 0
 1
 1
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 20743
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 276478
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 181886
 0
 1
 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
 408601
 3
 19
 22
 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
 352040
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egle_16_DD/ID_discovery_controls
 CNVs from the Database of Genomic Variants (DGV)
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 125642
 0
 3
 3
 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
 20743
 2
 0
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 89110
 0
 1
 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
 276478
 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)
 44101
 0
 2
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 408601
 2
 16
 18
 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
 352040
 0
 0
 0

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
 aCGH (Agilent 4x180K or 8x60K), PCR
 egle_16_DD/ID_discovery_cases
  Lithuania
 aCGH
  Agilent 60K, Agilent 105K, or Agilent 1M
 ADM-2
 Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
 FISH or RT-PCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 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
 
 
 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
  egle_16_DD/ID_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  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
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  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
  celestino-soper_11_ASD_discovery_cases-11533
 NA
 M
 ASD
 NA
 NA
 25120416
 25178368
  57953
 GRCh38
 Deletion
 Yes
  egle_16_DD/ID_discovery_cases-case15_1
 4 yrs.
 F
 Developmental delay
 Dysgenesis of the right iris, strabismus, thin upper lip, dens invaginatus, redundant periumbilical skin, sacral dimple
 Developmental delay
 22322841
 24774751
  2451911
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14218_3510
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 27770429
 27813116
  42688
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6357_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 27755769
 27836347
  80579
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case686-3
 6 yrs.
 M
 ASD
 ASD; no other clinical information provided
 N/A
 27393364
 27414300
  20937
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11483.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 23859279
 24119279
  260001
 GRCh38
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case999561
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 22048637
 22069379
  20743
 Unknown
 Deletion
 No
  levy_11_ASD_discovery_cases-11422.p1
 NA
 M
 ASD
 NA
 NA
 23843471
 24119948
  276478
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1200-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 26583689
 26765574
  181886
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11097.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
 25555425
 25576891
  21467
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11141.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 25555935
 25576891
  20957
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11276.p1
 7.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
 25968541
 25982443
  13903
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11330.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
 25555425
 25575562
  20138
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11364.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
 25967309
 25982443
  15135
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11422.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
 23850709
 24118765
  268057
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11422.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
 27750233
 28158834
  408602
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11537.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 66; verbal IQ, 63
 25555425
 25576891
  21467
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11667.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 56; verbal IQ, 51
 27076754
 27372199
  295446
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11712.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
 25555425
 25575562
  20138
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11872.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 65; verbal IQ, 67
 25555425
 25573915
  18491
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11892.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
 25555425
 25569422
  13998
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11972.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
 25555425
 25569422
  13998
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11982.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
 25555425
 25573915
  18491
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12093.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
 25727437
 25735110
  7674
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12162.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
 25555425
 25573915
  18491
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12227.p1
 12.4
 M
 Autism
 NA
 Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
 25555935
 25576891
  20957
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 25555425
 25575562
  20138
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12628.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 102; verbal IQ, 120
 25555425
 25575562
  20138
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12681.p1
 6.5
 F
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 65; verbal IQ, 69
 25554550
 25576891
  22342
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12704.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 106
 25555425
 25569422
  13998
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13174.p1
 10
 M
 Aspergers
 NA
 Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
 24376854
 24422531
  45678
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case191
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 21638562
 21990601
  352040
 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-controlB609802_1007875361
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25555425
  25585525
  30101
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB626857_1007872217
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24564198
  24689840
  125643
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900056_900056
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24975608
  25034520
  58913
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1055
  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
 
  22048637
  22069379
  20743
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split396
  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
 
  25970163
  25983887
  13725
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control13952.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  23795821
  23884931
  89111
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11422.s1
  NA
  F
  Control
  NA
  NA
  23843471
  24119948
  276478
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C41778
  N/A
  M
  Control
  NIMH Control (NIMH ID 47544)
 
  22392543
  22436643
  44101
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C44633
  N/A
  F
  Control
  NIMH Control (NIMH ID 59719)
 
  25003449
  25028580
  25132
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11002.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  25555425
  25575562
  20138
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11246.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  25555425
  25576891
  21467
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11422.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  23850709
  24124264
  273556
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11422.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  27750233
  28158834
  408602
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11440.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  25555425
  25573915
  18491
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11537.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  25555425
  25575562
  20138
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11580.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  25555935
  25573915
  17981
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11584.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  25555425
  25576891
  21467
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11627.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  25555425
  25560764
  5340
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11667.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  27076754
  27375630
  298877
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11712.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  25555425
  25576891
  21467
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11810.s1
  4.4
  F
  Control (matched sibling)
  NA
  NA
  25351018
  25352314
  1297
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12051.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  25556972
  25576891
  19920
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  25558255
  25576891
  18637
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12250.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  27910485
  27915407
  4923
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12255.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  25555935
  25575562
  19628
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12690.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  25556972
  25576891
  19920
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13327.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  25555425
  25576891
  21467
  GRCh38
  Duplication
  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-11533
 aCGH (Agilent 4x180K or 8x60K), PCR
 
 De novo
 Simplex
 NA
 SEPSECS,SEPSECS-AS1
 
 egle_16_DD/ID_discovery_cases-case15_1
 FISH or RT-PCR
 
 De novo
 
 
 CDC42P6,RFPL4AP3,MIR573,RN7SL16P,ATP5MGP3,LINC02473,HNRNPA1P65,DHX15,ADGRA3,GBA3,ERVH-1,PPARGC1A
 
 engchuan_15_ASD_discovery_cases-case14218_3510
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6357_3
 
 
 Unknown
 
 
 
 
 gazzellone_14_ASD_discovery_cases-case686-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13a_ASD_discovery_cases-11483.p1
 
 
 Unknown
 Simplex
 Unknown
 PPARGC1A
 
 kanduri_15_ASD_discovery_cases-case999561
 
 
 Paternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, KCNIP4(dist=98263),LOC100505912(dist=259611)
 
 levy_11_ASD_discovery_cases-11422.p1
 
 
 Paternal
 Simplex
 Not segregated
 PPARGC1A
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1200-0
 qPCR
 
 Paternal
 Unknown
 Unknown
 TBC1D19
 
 sanders_11_ASD_discovery_cases-11097.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11141.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11276.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11364.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11422.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 PPARGC1A
 
 sanders_11_ASD_discovery_cases-11422.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11537.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11667.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02261
 
 sanders_11_ASD_discovery_cases-11712.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11872.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11892.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11972.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11982.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12093.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12162.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12227.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12628.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12681.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12704.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13174.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 yin_16_ASD_discovery_cases-case191
 
 
 Unknown
 Unknown
 Unknown
 KCNIP4-IT1,KCNIP4
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB609802_1007875361
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB626857_1007872217
 
 
  Unknown
 
 
  ATP5MGP3,LINC02473,DHX15
 
engchuan_15_ASD_discovery_controls-controlHABC_900056_900056
 
 
  Unknown
 
 
  LGI2,CCDC149
 
kanduri_15_ASD_discovery_controls-control_split1055
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, KCNIP4(dist=98263),LOC100505912(dist=259611)
 
kanduri_15_ASD_discovery_controls-control_split396
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, SMIM20(dist=38662),RBPJ(dist=337445)
 
krumm_15_ASD_discovery_controls-control13952.s1
  Omni2.5-4v1
 
  Maternal
 
 
  PPARGC1A
 
levy_11_ASD_discovery_controls-11422.s1
 
 
  Paternal
  Simplex
  NA
  PPARGC1A
 
poultney_13_ASD_discovery_controls-control05C41778
 
 
  Unknown
 
 
  ADGRA3
 
poultney_13_ASD_discovery_controls-control05C44633
 
 
  Unknown
 
 
  LGI2
 
sanders_11_ASD_discovery_controls-11002.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11246.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11422.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PPARGC1A
 
sanders_11_ASD_discovery_controls-11422.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11440.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11537.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11580.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11584.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11627.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11667.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02261
 
sanders_11_ASD_discovery_controls-11712.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11810.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZCCHC4
 
sanders_11_ASD_discovery_controls-12051.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12250.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12255.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12690.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13327.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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