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19p13.12CNV Type: Deletion-Duplication


Largest CNV size: 836848 bp

Statistics Box:
Number of Reports: 16



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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
NA
Duplication

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
 1028
 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
 246
 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
 35988
 0
 2
 2
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 303385
 2
 0
 2
 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
 269338
 0
 1
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 985849
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 985849
 1
 8
 9
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 245301
 2
 1
 3
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 319000
 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
 49000
 0
 1
 1
 nebel_15_ASD/ID_discovery_cases
 Second child born to healthy non-consanguineous parents of African and European descent
 1
 Case presented with autism, developmental delay, and macrocephaly at age of 3.5 years; additional diagnosis of intellectual disability at age of 11 years.
 16 yrs.
 Male
 760000
 0
 1
 1
 nebel_15_DD/ID_discovery_cases
 Cases from DECIPHER and other publications with overlapping events at the 19p13.12 locus
 16
 Cases presented with at least one of the following phenotypes: developmental delay, intellectual disability, microcephaly, or macrocephaly
 N/A
 50.00% Male
 1920000
 5
 2
 7
 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)
 14589
 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
 24838
 1
 1
 2
 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
 32222
 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
 836848
 2
 6
 8
 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
 53352
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 1028
 1
 0
 1
 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
 330500
 1
 3
 4
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 303385
 0
 0
 0
 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
 39600
 0
 1
 1
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 10404
 1
 1
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 207707
 1
 3
 4
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 245301
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 14589
 0
 1
 1
 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)
 24838
 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.
 
 244363
 2
 1
 3
 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
 53352
 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
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 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
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 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
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 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
 nebel_15_ASD/ID_discovery_cases
  African and European
 aCGH
  Agilent 44K custom array
 
 
 FISH, array SNP (Affymetrix 6.0)
 nebel_15_DD/ID_discovery_cases
  N/A
 N/A
  N/A
 
 
 N/A
 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
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by 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
 
 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
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  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_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  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
 
 
  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-caseSSC07305
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 15329651
 15330679
  1029
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11461
 NA
 M
 ASD
 NA
 NA
 15107275
 15107521
  247
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14362_4760
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 15683785
 15718554
  34770
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14364_4780
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 15683785
 15719773
  35989
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si125
 10
 M
 Autism
 ADOS score: 8. Vineland composite score: 89.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
 14788832
 15092218
  303387
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001861
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 15227306
 15496644
  269339
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12106.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12106. SRS score of 88.
 Full-scale IQ (FSIQ) score of 112.
 14031872
 14042789
  10918
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13018.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13018. SRS score of 76.
 Full-scale IQ (FSIQ) score of 78.
 14941488
 15927339
  985852
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11216.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 14443469
 14458377
  14909
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11325.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 14030709
 14042789
  12081
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12083.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 14799173
 15088133
  288961
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13018.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 14941488
 15927339
  985852
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13070.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 14039752
 14042789
  3038
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13529.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 14039752
 14042789
  3038
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13567.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 14039752
 14042789
  3038
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13772.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 14028204
 14042789
  14586
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13958.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 14028204
 14042789
  14586
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11216.p1
 NA
 M
 ASD
 NA
 NA
 14429018
 14459770
  30753
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11239.p1
 NA
 F
 ASD
 NA
 NA
 15495293
 15595161
  99869
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-12083.p1
 NA
 M
 ASD
 NA
 NA
 14852966
 15098267
  245302
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown78
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 15013776
 15380987
  367212
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam734Proband8225
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 15669207
 15718554
  49348
 GRCh38
 Duplication
 No
  nebel_15_ASD/ID_discovery_cases-caseTg64.001
 16 yrs.
 M
 Autism, intellectual disability, and macrocephaly
 Presented with autism, developmental delay, and macrocephaly (head circumference of 62.2 cm, SD +4) at age of 3.5 years. Birth/neonatal history: born after unremarkable pregnancy; supraventricular tachycardia observed at birth (later resolved). Brain imaging: MRI at 15 years old revealed maldevelopment of posterior cerebral white matter; CT head scan revealed optic atrophy. Family history: healthy non-consanguineous parents of African and European descent, father with speech delay as a child, mother with macrocephaly (head circumference of 62.0 cm, SD +4.1) and special education as a child; two siblings with no reported cognitive impairments, one sibling (Tg64.002) with macrocephaly (head circumference of 58.4 cm, SD + 2.4).
 Diagnosed with intellectual disability at age of 11 years
 14941170
 15698941
  757772
 GRCh38
 Duplication
 Yes
  nebel_15_DD/ID_discovery_cases-case10
 N/A
 M
 Intellectual disability and macrocephaly
 DECIPHER ID 249428. Macrocephaly
 Intellectual disability
 14939188
 15919190
  980003
 GRCh38
 Duplication
 N/A
  nebel_15_DD/ID_discovery_cases-case11
 N/A
 M
 Macrocephaly
 Case originally described in Sanders et al., 2011. Macrocephaly
 N/A
 14939188
 15779190
  840003
 GRCh38
 Duplication
 N/A
  nebel_15_DD/ID_discovery_cases-case12
 N/A
 M
 Intellectual disability
 DECIPHER ID 265764. Normal head circumference
 Intellectual disability
 14939188
 16129190
  1190003
 GRCh38
 Deletion
 N/A
  nebel_15_DD/ID_discovery_cases-case16
 N/A
 F
 Developmental delay
 Case originally described in Kosaki et al., 2011. Head circumference 10th %ile.
 Mild developmental delay
 15329189
 16089190
  760002
 GRCh38
 Deletion
 N/A
  nebel_15_DD/ID_discovery_cases-case7
 N/A
 M
 Intellectual disability
 Case originally described in Bonaglia et al., 2010. Head circumference in 5th-10th %ile.
 Intellectual disability
 14159188
 16079190
  1920003
 GRCh38
 Deletion
 N/A
  nebel_15_DD/ID_discovery_cases-case8
 N/A
 M
 Intellectual disability and microcephaly
 DECIPHER ID 255743. Microcephaly at birth
 Intellectual disability
 14269188
 15379189
  1110002
 GRCh38
 Deletion
 N/A
  nebel_15_DD/ID_discovery_cases-case9
 N/A
 F
 Microcephaly
 DECIPHER ID 249355. Microcephaly
 N/A
 14549188
 15549189
  1000002
 GRCh38
 Deletion
 N/A
  poultney_13_ASD_discovery_cases-caseHI2387
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0906303; NDAR ID NDAR_INVVY103TJN)
 
 14028203
 14042791
  14589
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case52217
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 13864502
 13867928
  3427
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseL384
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 15460030
 15484867
  24838
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-236
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 15670436
 15702657
  32222
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11216.p1
 4.7
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
 14427808
 14459891
  32084
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11239.p1
 17.3
 F
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 109; verbal IQ, 140
 15495417
 15595477
  100061
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11325.p1
 15.6
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 21
 14017983
 14042481
  24499
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11349.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
 15886612
 15909566
  22955
 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
 14853868
 15098232
  244365
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12106.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
 14019403
 14042481
  23079
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12310.p1
 9.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
 14019403
 14042481
  23079
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13018.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
 14938905
 15775755
  836851
 GRCh38
 Duplication
 Yes
  yin_16_ASD_discovery_cases-case543
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 15565939
 15619290
  53352
 GRCh38
 Duplication
 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
  brandler_18_ASD_discovery_controls-controlSSC07323
  N/A
  M
  Control
  Control from SSC_phase1 cohort
 
  15329651
  15330679
  1029
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-controlB356202_1007844561
  N/A
  N/A
  Control
  No previous psychiatric history
 
  15659608
  15990108
  330501
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB951657_1007843871
  N/A
  N/A
  Control
  No previous psychiatric history
 
  14541466
  14590281
  48816
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13866137
  13951070
  84934
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
  N/A
  N/A
  Control
  No previous psychiatric history
 
  15668643
  15719773
  51131
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split2014
  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
 
  14793465
  14833064
  39600
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control13487.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13487. SRS score of 38.
 
  14042452
  14042789
  338
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control13512.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13512. SRS score of 38.
 
  14032385
  14042789
  10405
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11809.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  13980572
  13983280
  2709
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12083.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  14880425
  15088133
  207709
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13512.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  14039752
  14042789
  3038
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13567.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  14039752
  14042789
  3038
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-12083.s1
  NA
  F
  Control
  NA
  NA
  14852966
  15098267
  245302
  GRCh38
  Deletion
  No
  poultney_13_ASD_discovery_controls-control05C39968A
  N/A
  M
  Control
  NIMH Control (NIMH ID 51278)
 
  14028203
  14042791
  14589
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8.6
  M
  Control (matched sibling)
  NA
  NA
  15886612
  15912654
  26043
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12083.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  14853868
  15098232
  244365
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  14805759
  14810881
  5123
  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-caseSSC07305
 PCR or SNP data validation
 
 Paternal
 
 
 BRD4
 
 celestino-soper_11_ASD_discovery_cases-11461
 
 
 Unknown
 Simplex
 NA
 SYDE1
 
 engchuan_15_ASD_discovery_cases-case14362_4760
 
 
 Unknown
 
 
 CYP4F12
 
 engchuan_15_ASD_discovery_cases-case14364_4780
 
 
 Unknown
 
 
 CYP4F12
 
 girirajan_11_ASD_discovery_cases-Si125
 
 
 Maternal
 Simplex
 
 OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C1,OR7C2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001861
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 EPHX3,MIR1470,RASAL3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2
 
 krumm_13_ASD_discovery_cases-case12106.p1
 
 
 Paternal
 Simplex
 Segregated
 IL27RA
 
 krumm_13_ASD_discovery_cases-case13018.p1
 Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
 
 De novo
 Simplex
 Segregated
 CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,OR7C2,LINC01835,OR10H2
 
 krumm_15_ASD_discovery_cases-case11216.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 PKN1
 
 krumm_15_ASD_discovery_cases-case11325.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 RLN3,IL27RA
 
 krumm_15_ASD_discovery_cases-case12083.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C1,OR7C2
 
 krumm_15_ASD_discovery_cases-case13018.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,OR7C2,LINC01835,OR10H2
 
 krumm_15_ASD_discovery_cases-case13070.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 IL27RA
 
 krumm_15_ASD_discovery_cases-case13529.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 IL27RA
 
 krumm_15_ASD_discovery_cases-case13567.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 IL27RA
 
 krumm_15_ASD_discovery_cases-case13772.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 RLN3,IL27RA
 
 krumm_15_ASD_discovery_cases-case13958.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 RLN3,IL27RA
 
 levy_11_ASD_discovery_cases-11216.p1
 
 
 Maternal
 Simplex
 Segregated
 PKN1
 
 levy_11_ASD_discovery_cases-11239.p1
 
 
 Paternal
 Simplex
 Segregated
 PGLYRP2,CYP4F22,CYP4F23P
 
 levy_11_ASD_discovery_cases-12083.p1
 
 
 Maternal
 Simplex
 Not segregated
 OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown78
 
 
 De novo
 Unknown
 Unknown
 CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L
 
 nava_13_ASD_discovery_cases-Fam734Proband8225
 
 
 Unknown
 Simplex
 Unknown
 CYP4F10P,CYP4F12
 
 nebel_15_ASD/ID_discovery_cases-caseTg64.001
 FISH, Array SNP (Affy 6.0)
 Maternal (macrocephaly phenotype)
 Maternal
 Multi-generational (macrocephaly phenotype)
 CNV segregates with macrocephaly; incomplete segregation with ASD/ID phenotype
 CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,OR7C2
 
 nebel_15_DD/ID_discovery_cases-case10
 CNV validation N/A
 
 Inherited (paternal origin unknown)
 
 
 CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,OR7C2,LINC01835,OR10H2
 
 nebel_15_DD/ID_discovery_cases-case11
 CNV validation N/A
 
 De novo
 
 
 CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR7C2,OR10H2
 
 nebel_15_DD/ID_discovery_cases-case12
 CNV validation N/A
 
 De novo
 
 
 CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,OR7C2,LINC01835,CYP4F9P,RAB8A,OR10H2
 
 nebel_15_DD/ID_discovery_cases-case16
 CNV validation N/A
 
 De novo
 
 
 MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,LINC01835,CYP4F9P,OR10H2
 
 nebel_15_DD/ID_discovery_cases-case7
 CNV validation N/A
 
 Maternal
 
 
 RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,ADGRE3,OR10H2
 
 nebel_15_DD/ID_discovery_cases-case8
 CNV validation N/A
 
 De novo
 
 
 PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,DDX39A,TECR,OR7C1,OR7C2,ADGRE3
 
 nebel_15_DD/ID_discovery_cases-case9
 CNV validation N/A
 
 Unknown
 
 
 NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,TECR,OR7C1,OR7C2,ADGRE3
 
 poultney_13_ASD_discovery_cases-caseHI2387
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RLN3,IL27RA
 
 prasad_12_ASD_discovery_cases-case52217
 
 
 Unknown
 Unknown
 Unknown
 C19orf57
 
 prasad_12_ASD_discovery_cases-caseL384
 
 
 Unknown
 Unknown
 Unknown
 CYP4F22
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-236
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 CYP4F12
 
 sanders_11_ASD_discovery_cases-11216.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 PKN1
 
 sanders_11_ASD_discovery_cases-11239.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 PGLYRP2,CYP4F22,CYP4F23P
 
 sanders_11_ASD_discovery_cases-11325.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RLN3,IL27RA
 
 sanders_11_ASD_discovery_cases-11349.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CYP4F2
 
 sanders_11_ASD_discovery_cases-12083.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
 
 sanders_11_ASD_discovery_cases-12106.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RLN3,IL27RA
 
 sanders_11_ASD_discovery_cases-12310.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RLN3,IL27RA
 
 sanders_11_ASD_discovery_cases-13018.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR7C2,OR10H2
 
 yin_16_ASD_discovery_cases-case543
 
 
 Unknown
 Unknown
 Unknown
 RPL23AP2,CYP4F23P,CYP4F8
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC07323
  PCR or SNP data validation
 
  Paternal
 
 
  BRD4
 
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
 
 
  Unknown
 
 
  CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC01835,CYP4F9P,OR10H2
 
engchuan_15_ASD_discovery_controls-controlB951657_1007843871
 
 
  Unknown
 
 
  NDUFB7,RN7SL337P,RN7SL842P,CLEC17A,TECR
 
engchuan_15_ASD_discovery_controls-controlHABC_900758_900758
 
 
  Unknown
 
 
  MIR181C,MIR181D,NANOS3,CC2D1A,PODNL1,C19orf57
 
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
 
 
  Unknown
 
 
  CYP4F10P,CYP4F12
 
kanduri_15_ASD_discovery_controls-control_split2014
 
 
  Unknown
 
 
  ZNF333
 
krumm_13_ASD_discovery_controls-control13487.s1
 
 
  Maternal
  Simplex
 
  IL27RA
 
krumm_13_ASD_discovery_controls-control13512.s1
 
 
  Paternal
  Simplex
 
  IL27RA
 
krumm_15_ASD_discovery_controls-control11809.s1
  Illumina 1MDuo
 
  De novo
 
 
  RFX1
 
krumm_15_ASD_discovery_controls-control12083.s1
  Illumina 1MDuo
 
  Maternal
 
 
  OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
 
krumm_15_ASD_discovery_controls-control13512.s1
  1M-Duov3
 
  Paternal
 
 
  IL27RA
 
krumm_15_ASD_discovery_controls-control13567.s1
  1M-Duov3
 
  Maternal
 
 
  IL27RA
 
levy_11_ASD_discovery_controls-12083.s1
 
 
  Maternal
  Simplex
  NA
  OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
 
poultney_13_ASD_discovery_controls-control05C39968A
 
 
  Unknown
 
 
  RLN3,IL27RA
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CYP4F2,CYP4F11
 
sanders_11_ASD_discovery_controls-12083.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,OR7A1P,SLC1A6,CASP14,OR1I1,OR7C2
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Maternal
  Simplex (quad)
  NA
  OR7C1
 

No Animal Model Data Available
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