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11q13.2CNV Type: Deletion-Duplication


Largest CNV size: 441253 bp

Statistics Box:
Number of Reports: 18



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
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
 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
 1704
 1
 0
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 8315
 2
 0
 2
 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
 410607
 1
 5
 6
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 362340
 0
 2
 2
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 76189
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 107517
 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
 86387
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 428994
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 436654
 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
 
 
 151123
 0
 1
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 247000
 0
 1
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 352113
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 410608
 0
 3
 3
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 82806
 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
 128260
 0
 2
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 441253
 7
 4
 11
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 14118
 2
 0
 2
 woodbury-smith_14_ASD_discovery_cases
 Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
 19
 Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
 N/A
 N/A
 384669
 0
 1
 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
 41777
 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
 278042
 1
 10
 11
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 107774
 0
 6
 6
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 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
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 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)
 128260
 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.
 
 263430
 3
 5
 8
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 14118
 0
 0
 0
 woodbury-smith_14_ASD_discovery_controls
 Platform-matched controls from the KORA and COGEND datasets
 2988
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 41777
 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
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 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
 
 
 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
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 Array SNP (Affymetrix CytoScan HD)
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 Long-range PCR, qPCR
 woodbury-smith_14_ASD_discovery_cases
  US and Canada
 Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
 PennCNV, QuantiSNP, iPattern
 qPCR
 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
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  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
 
  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
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  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
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None
  woodbury-smith_14_ASD_discovery_controls
  Predominantly European
  Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
  PennCNV, QuantiSNP, iPattern
  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-caseSSC03647
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 68406660
 68408364
  1705
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-case3-0702-000
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 66244401
 66252715
  8315
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseSSC05931
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 66244401
 66252715
  8315
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14313_4300
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 67717559
 67989879
  272321
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20162_1653001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 67758808
 67985501
  226694
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case2299_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 67579272
 67697159
  117888
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5007_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 68563686
 68683779
  120094
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5376_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 67579272
 67989879
  410608
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5515_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 67596726
 67840398
  243673
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1414302
 
 
 Autism
 
 
 67109265
 67471604
  362340
 Unknown
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1414303
 
 
 Autism
 
 
 67103863
 67430258
  326396
 Unknown
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-20008109910
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 69234684
 69310873
  76190
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000870
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 67590733
 67698250
  107518
 GRCh38
 Duplication
 Yes
  kanduri_15_ASD_discovery_cases-case1834
 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.
 
 67501626
 67588012
  86387
 Unknown
 Duplication
 No
  krumm_15_ASD_discovery_cases-case12275.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 67604014
 68033012
  428999
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-12275.p1
 NA
 M
 ASD
 NA
 NA
 67596499
 68033156
  436658
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-MM0305-003
 NA
 M
 ASD
 NA
 NA
 68529733
 68680856
  151124
 GRCh38
 Duplication
 Yes
  nava_13_ASD_discovery_cases-Fam813Proband813-3
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 67734155
 67981346
  247192
 GRCh38
 Duplication
 No
  pfundt_16_nonNDD_discovery_cases-case38
 N/A
 N/A
 Non-NDD
 Disease cohort: blindness. Description: EYS deletion
 
 68185780
 68537892
  352113
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5007_3
 NA
 M
 Autism
 Anxiety, language delay, no epilepsy, no dysmorphic features
 Below average IQ
 68563686
 68683779
  120094
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5376_3
 NA
 M
 ASD
 NA
 NA
 67579272
 67989879
  410608
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5515_3
 NA
 M
 ASD
 NA
 NA
 67596726
 67840398
  243673
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case05HI4468A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1414305; NDAR ID NDAR_INVWU030LWL)
 
 67584132
 67666937
  82806
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case104085S
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 67101648
 67229907
  128260
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case47607
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 68087729
 68205591
  117863
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11146.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
 67734155
 67992895
  258741
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11321.p1
 17.7
 M
 Autism
 NA
 Full-scale IQ, 12; non-verbal IQ, 17; verbal IQ, 7
 68431540
 68439819
  8280
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11540.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
 69599509
 69615426
  15918
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11542.p1
 12.5
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
 67734155
 67947557
  213403
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11554.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
 67711837
 67906211
  194375
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11557.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 67744882
 67947557
  202676
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12083.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
 68431540
 68438705
  7166
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12144.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
 69142111
 69146862
  4752
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12275.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 67592793
 68034050
  441258
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12534.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
 67734155
 67985501
  251347
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13226.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
 69599215
 69616648
  17434
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case2-1075-003
 N/A
 M
 ASD
 N/A
 N/A
 68962076
 68976193
  14118
 GRCh38
 Deletion
 Yes
  walker_13_ASD_discovery_cases-case4-0023-003
 N/A
 F
 ASD
 Family history: affected monozygotic twin sibling (also female)
 N/A
 68962076
 68969593
  7518
 GRCh38
 Deletion
 Yes
  woodbury-smith_14_ASD_discovery_cases-case4
 N/A
 M
 ASD
 Family history: CNV found in 1 additional ASD case, 1 case with broad autism phenotype (BAP), and 2 non-ASD cases (bipolar disorder and recurrent depressive disorder); CNV also found in one unaffected family member; grandfather with broad autism phenotype, suspected Asperger syndrome
 
 67579816
 67964485
  384670
 GRCh38
 Duplication
 Yes
  yin_16_ASD_discovery_cases-case411
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 67151146
 67192922
  41777
 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-control110036017663_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67734155
  67832077
  97923
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB122678_1007872285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67734155
  67820541
  86387
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB277797_1007853793
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67758808
  67906211
  147404
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB655824_1007872623
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67711837
  67989879
  278043
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB855930_1007853688
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67734155
  67820541
  86387
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB910960_1007873735
  N/A
  N/A
  Control
  No previous psychiatric history
 
  68903951
  68939583
  35633
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB934337_1007873579
  N/A
  N/A
  Control
  No previous psychiatric history
 
  68903244
  68939583
  36340
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67758808
  67964485
  205678
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900515_900515
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67717559
  67989879
  272321
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900837_900837
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67735744
  67820541
  84798
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902636_902636
  N/A
  N/A
  Control
  No previous psychiatric history
 
  67714968
  67981346
  266379
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-11210113056
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  68406250
  68460727
  54478
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-11806105859
  N/A
  N/A
  Control
  Ethnicity: Mixed Race
  N/A
  68406250
  68460727
  54478
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-16503100409
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  69093203
  69200978
  107776
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-17203100441
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  69449104
  69499517
  50414
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-34306106585
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  68406686
  68460727
  54042
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-60505104592
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  68402189
  68460380
  58192
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11352.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  67734155
  67846996
  112842
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11436.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  67734155
  67997585
  263431
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11615.s1
  10.7
  F
  Control (matched sibling)
  NA
  NA
  67735744
  67964485
  228742
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12032.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  68038096
  68050858
  12763
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  68804309
  68818518
  14210
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12301.s1
  16.8
  F
  Control (matched sibling)
  NA
  NA
  67734155
  67820541
  86387
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12701.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  67786210
  67794245
  8036
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12722.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  69599215
  69616648
  17434
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseSSC03647
 PCR or SNP data validation
 
 Maternal
 
 
 LRP5
 
 brandler_18_ASD_replication_cases-case3-0702-000
 No validation step reported
 
 Maternal
 
 
 PACS1
 
 brandler_18_ASD_replication_cases-caseSSC05931
 No validation step reported
 
 Maternal
 
 
 PACS1
 
 engchuan_15_ASD_discovery_cases-case14313_4300
 
 
 Unknown
 
 
 OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
 
 engchuan_15_ASD_discovery_cases-case20162_1653001
 
 
 Unknown
 
 
 ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
 
 engchuan_15_ASD_discovery_cases-case2299_1
 
 
 Unknown
 
 
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,GSTP1,ACY3,ALDH3B2,TBX10
 
 engchuan_15_ASD_discovery_cases-case5007_3
 
 
 Unknown
 
 
 PPP6R3
 
 engchuan_15_ASD_discovery_cases-case5376_3
 
 
 Unknown
 
 
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,GSTP1,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
 
 engchuan_15_ASD_discovery_cases-case5515_3
 
 
 Unknown
 
 
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
 
 gai_11_ASD_discovery_cases-AU1414302
 
 
 Inherited
 
 
 GSTP1, NDUFV1, NUDT8, TBX10, ACY3, ALDH3B2, LOC645332
 
 gai_11_ASD_discovery_cases-AU1414303
 
 
 Inherited
 
 
 GSTP1, NDUFV1, NUDT8, TBX10, ACY3, ALDH3B2, LOC645332
 
 girirajan_13b_ASD_discovery_cases-20008109910
 
 
 Unknown
 Unknown
 Unknown
 IFITM9P,MYEOV
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000870
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,ACY3,ALDH3B2,TBX10
 
 kanduri_15_ASD_discovery_cases-case1834
 
 
 De novo
 Unknown
 Unknown
 FAM86C2P (non-coding RNA, exonic)
 
 krumm_15_ASD_discovery_cases-case12275.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,NDUFS8,MIR7113,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,UNC93B1,TBX10,OR7E11P,ALDH3B1
 
 levy_11_ASD_discovery_cases-12275.p1
 
 
 Paternal
 Simplex
 Segregated
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,NDUFS8,MIR7113,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,UNC93B1,TBX10,OR7E11P,ALDH3B1
 
 marshall_08_ASD_discovery_cases-MM0305-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 PPP6R3
 
 nava_13_ASD_discovery_cases-Fam813Proband813-3
 
 
 Paternal
 Simplex
 Unknown
 ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
 
 pfundt_16_nonNDD_discovery_cases-case38
 Array SNP (Affymetrix CytoScan HD)
 
 
 
 
 C11orf24,NDUFA3P2,LRP5,PPP6R3,KMT5B
 
 pinto_10_ASD_discovery_cases-case5007_3
 Agilent1M
 
 maternal
 Multiplex
 NA
 PPP6R3
 
 pinto_10_ASD_discovery_cases-case5376_3
 Agilent1M
 
 maternal
 NA
 NA
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,GSTP1,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
 
 pinto_10_ASD_discovery_cases-case5515_3
 Agilent1M
 
 maternal
 NA
 NA
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
 
 poultney_13_ASD_discovery_cases-case05HI4468A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 C11orf72,NDUFV1,DOC2GP,NUDT8,GSTP1,ACY3,ALDH3B2,TBX10
 
 prasad_12_ASD_discovery_cases-case104085S
 
 
 Unknown
 Unknown
 Unknown
 NUDT8,ALDH3B2,NDUFV1,TBX10,GSTP1,ACY3,DOC2GP
 
 prasad_12_ASD_discovery_cases-case47607
 
 
 Unknown
 Unknown
 Unknown
 PPP6R3
 
 sanders_11_ASD_discovery_cases-11146.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,UNC93B1,OR7E11P
 
 sanders_11_ASD_discovery_cases-11321.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 LRP5
 
 sanders_11_ASD_discovery_cases-11540.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11542.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ALG1L8P,RNU6-46P,RPS3AP40,FAM86C2P,ENPP7P7,OR7E11P
 
 sanders_11_ASD_discovery_cases-11554.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 OR7E145P,ALG1L8P,RNU6-46P,UNC93B5,FAM86C2P,ENPP7P7,OR7E11P
 
 sanders_11_ASD_discovery_cases-11557.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ALG1L8P,RNU6-46P,RPS3AP40,FAM86C2P,ENPP7P7,OR7E11P
 
 sanders_11_ASD_discovery_cases-12083.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 LRP5
 
 sanders_11_ASD_discovery_cases-12144.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TPCN2
 
 sanders_11_ASD_discovery_cases-12275.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,NDUFS8,MIR7113,MIR4691,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,UNC93B1,TBX10,OR7E11P,ALDH3B1
 
 sanders_11_ASD_discovery_cases-12534.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
 
 sanders_11_ASD_discovery_cases-13226.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 walker_13_ASD_discovery_cases-case2-1075-003
 Long-range PCR or qPCR
 
 Maternal
 Simplex
 Not segregated (deletion present in unaffected sibling)
 
 
 walker_13_ASD_discovery_cases-case4-0023-003
 Long-range PCR or qPCR
 
 Maternal
 Multiplex
 Segregated
 
 
 woodbury-smith_14_ASD_discovery_cases-case4
 qPCR
 
 Maternal
 Possible multi-generational (grandfather with broad autism phenotype, suspected Asperger syndrome)
 Incomplete segregation
 C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,GSTP1,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,TBX10,OR7E11P
 
 yin_16_ASD_discovery_cases-case411
 
 
 Unknown
 Unknown
 Unknown
 KDM2A
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017663_
 
 
  Unknown
 
 
  ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
 
engchuan_15_ASD_discovery_controls-controlB122678_1007872285
 
 
  Unknown
 
 
  ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
 
engchuan_15_ASD_discovery_controls-controlB277797_1007853793
 
 
  Unknown
 
 
  ALG1L8P,RNU6-46P,FAM86C2P,ENPP7P7,OR7E11P
 
engchuan_15_ASD_discovery_controls-controlB655824_1007872623
 
 
  Unknown
 
 
  OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,UNC93B5,FAM86C2P,ENPP7P7,OR7E11P
 
engchuan_15_ASD_discovery_controls-controlB855930_1007853688
 
 
  Unknown
 
 
  ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
 
engchuan_15_ASD_discovery_controls-controlB910960_1007873735
 
 
  Unknown
 
 
  IGHMBP2
 
engchuan_15_ASD_discovery_controls-controlB934337_1007873579
 
 
  Unknown
 
 
  MRPL21,IGHMBP2
 
engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
 
 
  Unknown
 
 
  ALG1L8P,RNU6-46P,RPS3AP40,FAM86C2P,ENPP7P7,OR7E11P
 
engchuan_15_ASD_discovery_controls-controlHABC_900515_900515
 
 
  Unknown
 
 
  OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,OR7E11P
 
engchuan_15_ASD_discovery_controls-controlHABC_900837_900837
 
 
  Unknown
 
 
  ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
 
engchuan_15_ASD_discovery_controls-controlHABC_902636_902636
 
 
  Unknown
 
 
  OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,UNC93B5,FAM86C2P,ENPP7P7,OR7E11P
 
girirajan_13b_ASD_discovery_controls-11210113056
 
 
  Unknown
 
 
  LRP5
 
girirajan_13b_ASD_discovery_controls-11806105859
 
 
  Unknown
 
 
  LRP5
 
girirajan_13b_ASD_discovery_controls-16503100409
 
 
  Unknown
 
 
  TPCN2
 
girirajan_13b_ASD_discovery_controls-17203100441
 
 
  Unknown
 
 
  LINC01488
 
girirajan_13b_ASD_discovery_controls-34306106585
 
 
  Unknown
 
 
  LRP5
 
girirajan_13b_ASD_discovery_controls-60505104592
 
 
  Unknown
 
 
  LRP5
 
sanders_11_ASD_discovery_controls-11352.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
 
sanders_11_ASD_discovery_controls-11436.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,FAM86C2P,ENPP7P7,UNC93B1,OR7E11P
 
sanders_11_ASD_discovery_controls-11615.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ALG1L8P,RNU6-46P,RPS3AP40,FAM86C2P,ENPP7P7,OR7E11P
 
sanders_11_ASD_discovery_controls-12032.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MIR6753,TCIRG1
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CPT1A
 
sanders_11_ASD_discovery_controls-12301.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ALG1L8P,FAM86C2P,ENPP7P7,OR7E11P
 
sanders_11_ASD_discovery_controls-12701.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ALG1L8P,FAM86C2P
 
sanders_11_ASD_discovery_controls-12722.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 

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