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19q13.33CNV Type: Deletion-Duplication


Largest CNV size: 334436 bp

Statistics Box:
Number of Reports: 18



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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
NA
Duplication

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.
Deletion
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
NA
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Both rare and common genetic variants contribute to autism in the Faroe Islands.
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
 203
 1
 0
 1
 brand_15_ASD_discovery_cases
 ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
 259
 Diagnosis of ASD
 N/A
 N/A
 52476
 0
 2
 2
 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
 13818
 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
 345878
 1
 6
 7
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 0
 1
 1
 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
 289094
 0
 2
 2
 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
 39108
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 145421
 2
 4
 6
 leblond_19_ASD_discovery_cases
 Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
 36
 All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
 N/A
 77.78% Male
 67600
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 48272
 2
 0
 2
 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
 260000
 0
 1
 1
 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)
 34090
 1
 2
 3
 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
 61936
 7
 3
 10
 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
 334436
 20
 7
 27
 sato_12_ASD_discovery_cases_1
 Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
 1614
 Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
 NA
 78.07% Male
 14953
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 327948
 0
 1
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 64000
 2
 0
 2
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 2645283
 0
 1
 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
 348397
 2
 9
 11
 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.
 
 
 335709
 0
 1
 1
 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
 85855
 0
 2
 2
 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
 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
 16000
 1
 1
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 38814
 2
 3
 5
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 344762
 2
 1
 3
 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)
 61936
 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.
 
 344112
 13
 4
 17
 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
 327948
 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
 
 None
 brand_15_ASD_discovery_cases
  N/A
 Long-insert WGS
  Long-insert whole genome sequencing
 LUMPY, cn.MOPS, SV classifier
 
 None
 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)
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 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
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leblond_19_ASD_discovery_cases
  Faroe Islands
 Solid phase hybridization, WES
  Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
 PennCNV, QuantiSNP
 XHMM
 None
 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
 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
 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
 
 
 sato_12_ASD_discovery_cases_1
  Canadian (n=1158) and European (n=456)
 aCGH, array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
 DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
 
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

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_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  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
 
  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
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  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
 
 
  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-caseMT_184.3
 N/A
 M
 PDD-NOS
 Case from REACH cohort
 
 49440043
 49440246
  204
 GRCh38
 Deletion
 No
  brand_15_ASD_discovery_cases-case16
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 19 in this case. Duplication not previously identified by aCGH.
 
 48287594
 48307769
  20176
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case16
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 19 in this case. Duplication previously identified by aCGH (chr19:49278142-49321976; hg19).
 
 48773436
 48825912
  52477
 GRCh38
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11442
 NA
 M
 ASD
 NA
 NA
 51631518
 51645336
  13819
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case20098_1429001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 49107132
 49142749
  35618
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case21023_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 51770004
 52114116
  344113
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4151_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 51768238
 52114116
  345879
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4224_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 51770004
 52114116
  344113
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5076_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 52159397
 52200099
  40703
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5340_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 50678048
 50734242
  56195
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8631_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 51775416
 52104512
  329097
 GRCh38
 Duplication
 No
  gannon_11_ASD/DD_discovery_cases-patientU
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002130
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 50076580
 50354608
  278029
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003855
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 51824349
 52113443
  289095
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12843.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12843. SRS score of 72.
 Full-scale IQ (FSIQ) score of 93.
 49133000
 49172108
  39109
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11494.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48894997
 48922424
  27428
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11938.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48795425
 48813730
  18306
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12192.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 50031081
 50047059
  15979
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12539.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 49901638
 50047059
  145422
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13329.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48211709
 48234543
  22835
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13731.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48441768
 48453027
  11260
 GRCh38
 Duplication
 Yes
  leblond_19_ASD_discovery_cases-casePN400559
 N/A
 M
 ASD
 Diagnosis of Asperger syndrome. Behavioral/psychiatric evaluation: sleep disturbance.
 Full-scale IQ 92, performance IQ 92, verbal IQ 92
 48104515
 48172114
  67600
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-11494.p1
 NA
 M
 ASD
 NA
 NA
 48895061
 48929320
  34260
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-12303.p1
 NA
 M
 ASD
 NA
 NA
 51134936
 51183208
  48273
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown82
  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)
 
 48550244
 48809752
  259509
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case04HI2811A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0995303; NDAR ID NDAR_INVZH157CYV)
 
 48977922
 48999375
  21454
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3618A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1392302; NDAR ID NDAR_INVDM419REG)
 
 48575913
 48610002
  34090
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI0976A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU008103; NDAR ID NDAR_INVJX854VU0)
 
 49032094
 49036713
  4620
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case100677L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 56882402
 56889637
  7236
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case115751L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 56361499
 56405212
  43714
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case117371L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 56882402
 56889637
  7236
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case120919
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 53896477
 53903670
  7194
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case168753
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 55872843
 55934778
  61936
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case47005
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 57455454
 57463382
  7929
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case59724-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 56882402
 56889637
  7236
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60836
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 53896477
 53903670
  7194
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case60916L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 57352021
 57395173
  43153
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case93914
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 54171283
 54191521
  20239
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11121.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
 48680448
 48703205
  22758
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11176.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
 48680448
 48703160
  22713
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11178.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 119; verbal IQ, 103
 49948251
 49953470
  5220
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11257.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
 50757430
 50760253
  2824
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 49539278
 49543180
  3903
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11494.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
 48893480
 48935106
  41627
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 50826752
 50829982
  3231
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11573.p1
 8.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
 51775416
 52109852
  334437
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11598.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
 51870865
 51872973
  2109
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11645.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
 48695707
 48708712
  13006
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11664.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
 48793397
 48795582
  2186
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11665.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
 48993131
 49004321
  11191
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11811.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
 50827676
 50829982
  2307
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11916.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 49948251
 49953470
  5220
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11918.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
 49539114
 49543180
  4067
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11938.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
 48774885
 48818719
  43835
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12010.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
 50757430
 50760253
  2824
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12221.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
 51180140
 51215581
  35442
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12272.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 79; verbal IQ, 62
 48699602
 48707126
  7525
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12303.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 74; verbal IQ, 96
 51136723
 51180996
  44274
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12441.p1
 13.7
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
 49539114
 49543180
  4067
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12485.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
 50757430
 50760253
  2824
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12539.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 49898381
 50090736
  192356
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12805.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
 49539114
 49543180
  4067
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12843.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
 49136691
 49167394
  30704
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12969.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
 48699602
 48707126
  7525
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 49165931
 49172869
  6939
 GRCh38
 Deletion
 No
  sato_12_ASD_discovery_cases_1-family1caseIII-5
 32 yrs.
 M
 Asperger
 Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
 Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
 51630529
 51645481
  14953
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case557
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 48561514
 48889461
  327948
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-case2-0160-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: anxiety
 
 50676743
 50740743
  64001
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case2-1470-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 50676743
 50740743
  64001
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0139-001
  NA NA
 N/A
 F
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 47959360
 50604642
  2645283
 GRCh38
 Duplication
 Yes

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-controlB191910_1007853321
  N/A
  N/A
  Control
  No previous psychiatric history
 
  51341724
  51430388
  88665
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB240249_1007873508
  N/A
  N/A
  Control
  No previous psychiatric history
 
  50140004
  50227554
  87551
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB428062_1007840509
  N/A
  N/A
  Control
  No previous psychiatric history
 
  52083666
  52114116
  30451
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB445877_1007854331
  N/A
  N/A
  Control
  No previous psychiatric history
 
  51784199
  52114116
  329918
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB543816_1007853746
  N/A
  N/A
  Control
  No previous psychiatric history
 
  49215291
  49271593
  56303
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB853244_1007844851
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48893480
  48928582
  35103
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB969719_1007842424
  N/A
  N/A
  Control
  No previous psychiatric history
 
  51765719
  52114116
  348398
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB994805_1007853994
  N/A
  N/A
  Control
  No previous psychiatric history
 
  51784199
  52114116
  329918
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900097_900097
  N/A
  N/A
  Control
  No previous psychiatric history
 
  50140004
  50181264
  41261
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902536_902536
  N/A
  N/A
  Control
  No previous psychiatric history
 
  51770004
  52114116
  344113
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902538_902538
  N/A
  N/A
  Control
  No previous psychiatric history
 
  51770004
  52114116
  344113
  GRCh38
  Duplication
  No
  girirajan_11_ASD_discovery_controls-NIMH_182
  NA
  NA
  Control
  NA
  NA
  51783129
  52118838
  335710
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-28706106413
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  48661082
  48746937
  85856
  GRCh38
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-29606106442
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  48657918
  48730025
  72108
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11304.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11304. SRS score of 51.
 
  48977923
  48993923
  16001
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control13296.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13296. SRS score of 40.
 
  49167916
  49172108
  4193
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11304.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48977923
  48993923
  16001
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11494.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48894997
  48933811
  38815
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13015.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  50440879
  50452003
  11125
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13901.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  49537032
  49560691
  23660
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14211.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48977923
  48993923
  16001
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11494.s1
  NA
  M
  Control
  NA
  NA
  48895061
  48929320
  34260
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11518.s1
  NA
  F
  Control
  NA
  NA
  51769353
  52114114
  344762
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12303.s1
  NA
  F
  Control
  NA
  NA
  51134936
  51183208
  48273
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11121.s1
  16.2
  F
  Control (matched sibling)
  NA
  NA
  48680448
  48703205
  22758
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11176.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  48680448
  48703160
  22713
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11178.s1
  5.1
  M
  Control (matched sibling)
  NA
  NA
  49948251
  49953470
  5220
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11257.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  50757430
  50760253
  2824
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11365.s1
  13.1
  F
  Control (matched sibling)
  NA
  NA
  49948251
  49953470
  5220
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11494.s1
  19.3
  M
  Control (matched sibling)
  NA
  NA
  48893480
  48942560
  49081
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11518.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  51770004
  52114116
  344113
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11572.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  50757430
  50760253
  2824
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  48687731
  48690680
  2950
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  49534760
  49543180
  8421
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11916.s1
  6.9
  F
  Control (matched sibling)
  NA
  NA
  49948251
  49953470
  5220
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11986.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  50911231
  50915249
  4019
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12303.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  51136723
  51182507
  45785
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12321.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  49538115
  49543180
  5066
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  49539114
  49543180
  4067
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12969.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  48699602
  48707126
  7525
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13072.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  49539114
  49543180
  4067
  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-caseMT_184.3
 Not available
 
 Paternal
 
 
 SLC17A7
 
 brand_15_ASD_discovery_cases-case16
 
 
 Maternal
 Simplex
 Unknown
 ZNF114,CCDC114
 
 brand_15_ASD_discovery_cases-case16
 
 
 Maternal
 Simplex
 Unknown
 RNU6-317P,BCAT2,HSD17B14
 
 celestino-soper_11_ASD_discovery_cases-11442
 aCGH (Agilent 4x180K or 8x60K)
 
 Unknown
 Simplex
 NA
 SIGLEC14,SIGLEC5
 
 engchuan_15_ASD_discovery_cases-case20098_1429001
 
 
 Unknown
 
 
 LIN7B,C19orf73,SNRNP70,PPFIA3
 
 engchuan_15_ASD_discovery_cases-case21023_1
 
 
 Unknown
 
 
 FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
 engchuan_15_ASD_discovery_cases-case4151_1
 
 
 Unknown
 
 
 FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
 engchuan_15_ASD_discovery_cases-case4224_1
 
 
 Unknown
 
 
 FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
 engchuan_15_ASD_discovery_cases-case5076_3
 
 
 Unknown
 
 
 PPP2R1A,ZNF836
 
 engchuan_15_ASD_discovery_cases-case5340_3
 
 
 Unknown
 
 
 SHANK1,CLEC11A
 
 engchuan_15_ASD_discovery_cases-case8631_201
 
 
 Unknown
 
 
 FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,FPR1,ZNF649,ZNF432
 
 gannon_11_ASD/DD_discovery_cases-patientU
 
 
 Unknown
 Unknown
 
 NA
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002130
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 IZUMO2,NAPSB,MYH14,KCNC3,NR1H2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003855
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,ZNF649,ZNF432
 
 krumm_13_ASD_discovery_cases-case12843.p1
 
 
 Maternal
 Simplex
 Segregated
 PPFIA3,TRPM4,HRC
 
 krumm_15_ASD_discovery_cases-case11494.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 NUCB1-AS1,NUCB1,TULP2
 
 krumm_15_ASD_discovery_cases-case11938.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 BCAT2,HSD17B14
 
 krumm_15_ASD_discovery_cases-case12192.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ZNF473
 
 krumm_15_ASD_discovery_cases-case12539.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ATF5,MIR4751,IL4I1,NUP62,SIGLEC11,SIGLEC16,VRK3,ZNF473
 
 krumm_15_ASD_discovery_cases-case13329.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 CARD8
 
 krumm_15_ASD_discovery_cases-case13731.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GRIN2D,GRWD1
 
 leblond_19_ASD_discovery_cases-casePN400559
 
 
 Unknown
 Simplex
 Unknown
 LIG1,ZSWIM9,PLA2G4C
 
 levy_11_ASD_discovery_cases-11494.p1
 
 
 Paternal
 Simplex
 Not segregated
 NUCB1-AS1,NUCB1,TULP2
 
 levy_11_ASD_discovery_cases-12303.p1
 
 
 Paternal
 Simplex
 Not segregated
 SIGLEC17P,SIGLEC9,SIGLEC7
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown82
 
 
 Maternal
 Unknown
 Unknown
 SPACA4,RPL18,DBP,NTN5,FUT2,MAMSTR,FUT1,FGF21,RNU6-317P,SULT2B1,FAM83E,CA11,SEC1P,RASIP1,IZUMO1,BCAT2,SPHK2
 
 poultney_13_ASD_discovery_cases-case04HI2811A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 GYS1,RUVBL2
 
 poultney_13_ASD_discovery_cases-case05HI3618A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SPACA4,SULT2B1,FAM83E
 
 poultney_13_ASD_discovery_cases-case99HI0976A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CGB2,CGB1
 
 prasad_12_ASD_discovery_cases-case100677L
 
 
 Unknown
 Unknown
 Unknown
 MIR99B,MIRLET7E,MIR125A,NCRNA00085
 
 prasad_12_ASD_discovery_cases-case115751L
 
 
 Unknown
 Unknown
 Unknown
 SIGLECP3
 
 prasad_12_ASD_discovery_cases-case117371L
 
 
 Unknown
 Unknown
 Unknown
 MIR99B,MIRLET7E,MIR125A,NCRNA00085
 
 prasad_12_ASD_discovery_cases-case120919
 
 
 Unknown
 Unknown
 Unknown
 FUT2
 
 prasad_12_ASD_discovery_cases-case168753
 qPCR
 
 Maternal
 Unknown
 Unknown
 SHANK1,CLEC11A
 
 prasad_12_ASD_discovery_cases-case47005
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case59724-L
 
 
 Unknown
 Unknown
 Unknown
 MIR99B,MIRLET7E,MIR125A,NCRNA00085
 
 prasad_12_ASD_discovery_cases-case60836
 
 
 Unknown
 Unknown
 Unknown
 FUT2
 
 prasad_12_ASD_discovery_cases-case60916L
 
 
 Unknown
 Unknown
 Unknown
 PPP2R1A,ZNF836
 
 prasad_12_ASD_discovery_cases-case93914
 
 
 Unknown
 Unknown
 Unknown
 GYS1,RUVBL2
 
 sanders_11_ASD_discovery_cases-11121.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 FUT2,SEC1P
 
 sanders_11_ASD_discovery_cases-11176.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FUT2,SEC1P
 
 sanders_11_ASD_discovery_cases-11178.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SIGLEC11
 
 sanders_11_ASD_discovery_cases-11257.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GPR32P1
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RCN3
 
 sanders_11_ASD_discovery_cases-11494.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NUCB1-AS1,NUCB1,DHDH,TULP2
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 KLK15
 
 sanders_11_ASD_discovery_cases-11573.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,FPR1,ZNF649,ZNF432
 
 sanders_11_ASD_discovery_cases-11598.p1
 
 
 Unknown
 Simplex (trio)
 NA
 ZNF577
 
 sanders_11_ASD_discovery_cases-11645.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FUT2
 
 sanders_11_ASD_discovery_cases-11664.p1
 
 
 Maternal
 Simplex (trio)
 NA
 BCAT2
 
 sanders_11_ASD_discovery_cases-11665.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 GYS1,RUVBL2
 
 sanders_11_ASD_discovery_cases-11811.p1
 
 
 Both parents
 Simplex (trio)
 NA
 KLK15
 
 sanders_11_ASD_discovery_cases-11916.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SIGLEC11
 
 sanders_11_ASD_discovery_cases-11918.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RCN3
 
 sanders_11_ASD_discovery_cases-11938.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RNU6-317P,BCAT2,HSD17B14
 
 sanders_11_ASD_discovery_cases-12010.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 GPR32P1
 
 sanders_11_ASD_discovery_cases-12221.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 SIGLEC20P,MIR8074,SIGLEC22P,SIGLEC21P
 
 sanders_11_ASD_discovery_cases-12272.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FUT2
 
 sanders_11_ASD_discovery_cases-12303.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SIGLEC17P,SIGLEC7
 
 sanders_11_ASD_discovery_cases-12441.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 RCN3
 
 sanders_11_ASD_discovery_cases-12485.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GPR32P1
 
 sanders_11_ASD_discovery_cases-12539.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ATF5,MIR4751,IL4I1,NUP62,SIGLEC11,SIGLEC16,VRK3,ZNF473
 
 sanders_11_ASD_discovery_cases-12805.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RCN3
 
 sanders_11_ASD_discovery_cases-12843.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 PPFIA3,TRPM4,HRC
 
 sanders_11_ASD_discovery_cases-12969.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 FUT2
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TRPM4
 
 sato_12_ASD_discovery_cases_1-family1caseIII-5
 
 Possibly maternal
 Unknown
 Simplex for ASD; multiplex for anxiety disorder
 Unknown
 SIGLEC14,SIGLEC5
 
 yin_16_ASD_discovery_cases-case557
 
 
 Unknown
 Unknown
 Unknown
 SPACA4,RPL18,DBP,NTN5,FUT2,MAMSTR,FUT1,FGF21,RNU6-317P,SULT2B1,FAM83E,CA11,SEC1P,RASIP1,IZUMO1,BCAT2,HSD17B14,PLEKHA4,PPP1R15A,SPHK2,TULP2
 
 yuen_17_ASD_discovery_cases-case2-0160-003
 Illumina OMNI 2.5M
 
 Unknown
 Simplex
 Unknown
 SHANK1,CLEC11A
 
 yuen_17_ASD_discovery_cases-case2-1470-003
 Illumina OMNI 2.5M
 
 Unknown
 Multiplex
 Unknown
 SHANK1,CLEC11A
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14-0139-001
 RT-qPCR or WGS
 
 De novo
 
 
 PLA2G4C-AS1,CARD8-AS1,EMP3,KDELR1,SPACA4,RPL18,DBP,NTN5,FUT2,MAMSTR,FUT1,FGF21,RNU6-317P,NUCB1-AS1,FTL,MIR6798,LHB,CGB3,NTF6A,NTF6G,CGB2,CGB1,NTF6B,CGB5,CGB8,CGB7,NTF4,RN7SL708P,LIN7B,C19orf73,SLC6A21P,SUMO1P4,MIR4324,CD37,PTH2,GFY,RPL13A,SNORD32A,SNORD33,SNORD34,SNORD35A,RPS11,SNORD35B,MIR150,COX6CP7,PRRG2,RRAS,BCL2L12,MIR5088,ADM5,RNU6-841P,MIR6799,MIR6800,MIR4749,PTOV1-AS2,TBC1D17,MIR4750,ATF5,MIR4751,IZUMO2,NAPSB,FAM71E1,JOSD2,ELSPBP1,CABP5,LIG1,ZSWIM9,ZNF114-AS1,ZNF114,CCDC114,TMEM143,GRIN2D,GRWD1,KCNJ14,CYTH2,SULT2B1,FAM83E,CA11,SEC1P,RASIP1,IZUMO1,BCAT2,HSD17B14,PLEKHA4,PPP1R15A,NUCB1,DHDH,BAX,GYS1,RUVBL2,KCNA7,SNRNP70,PPFIA3,TRPM4,SLC6A16,TEAD2,DKKL1,SLC17A7,PIH1D1,ALDH16A1,FLT3LG,FCGRT,NOSIP,PRR12,SCAF1,IRF3,CPT1C,TSKS,AP2A1,MED25,PTOV1-AS1,PTOV1,PNKP,AKT1S1,IL4I1,NUP62,SIGLEC11,SIGLEC16,VRK3,ZNF473,NAPSA,POLD1,SPIB,EMC10,ASPDH,LRRC4B,BSPH1,PLA2G4C,SYNGR4,LMTK3,SPHK2,TULP2,HRC,CCDC155,RCN3,PRMT1,FUZ,MYH14,MYBPC2,CARD8,KCNC3,NR1H2
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB191910_1007853321
 
 
  Unknown
 
 
  VSIG10L,CLDND2,NKG7,C19orf84,NIFKP6,ETFB,SIGLEC10,LIM2
 
engchuan_15_ASD_discovery_controls-controlB240249_1007873508
 
 
  Unknown
 
 
  IZUMO2,MYH14
 
engchuan_15_ASD_discovery_controls-controlB428062_1007840509
 
 
  Unknown
 
 
  ZNF841,ZNF616,ZNF432
 
engchuan_15_ASD_discovery_controls-controlB445877_1007854331
 
 
  Unknown
 
 
  FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
engchuan_15_ASD_discovery_controls-controlB543816_1007853746
 
 
  Unknown
 
 
  SLC6A21P
 
engchuan_15_ASD_discovery_controls-controlB853244_1007844851
 
 
  Unknown
 
 
  NUCB1-AS1,NUCB1,TULP2
 
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
 
 
  Unknown
 
 
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
engchuan_15_ASD_discovery_controls-controlB994805_1007853994
 
 
  Unknown
 
 
  FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
engchuan_15_ASD_discovery_controls-controlHABC_900097_900097
 
 
  Unknown
 
 
  IZUMO2
 
engchuan_15_ASD_discovery_controls-controlHABC_902536_902536
 
 
  Unknown
 
 
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
engchuan_15_ASD_discovery_controls-controlHABC_902538_902538
 
 
  Unknown
 
 
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
girirajan_11_ASD_discovery_controls-NIMH_182
 
 
  Unknown
 
 
  FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
girirajan_13b_ASD_discovery_controls-28706106413
 
 
  Unknown
 
 
  NTN5,FUT2,MAMSTR,SEC1P,RASIP1,IZUMO1
 
girirajan_13b_ASD_discovery_controls-29606106442
 
 
  Unknown
 
 
  NTN5,FUT2,MAMSTR,SEC1P,RASIP1
 
krumm_13_ASD_discovery_controls-control11304.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  GYS1,RUVBL2
 
krumm_13_ASD_discovery_controls-control13296.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  TRPM4
 
krumm_15_ASD_discovery_controls-control11304.s1
  Illumina 1M
 
  Paternal
 
 
  GYS1,RUVBL2
 
krumm_15_ASD_discovery_controls-control11494.s1
  Illumina 1MDuo
 
  Paternal
 
 
  NUCB1-AS1,NUCB1,DHDH,TULP2
 
krumm_15_ASD_discovery_controls-control13015.s1
  Illumina 1MDuo
 
  Maternal
 
 
  MYBPC2
 
krumm_15_ASD_discovery_controls-control13901.s1
  Omni2.5-4v1
 
  Maternal
 
 
  NOSIP,RCN3
 
krumm_15_ASD_discovery_controls-control14211.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GYS1,RUVBL2
 
levy_11_ASD_discovery_controls-11494.s1
 
 
  Paternal
  Simplex
  NA
  NUCB1-AS1,NUCB1,TULP2
 
levy_11_ASD_discovery_controls-11518.s1
 
 
  Maternal
  Simplex
  NA
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
levy_11_ASD_discovery_controls-12303.s1
 
 
  Paternal
  Simplex
  NA
  SIGLEC17P,SIGLEC9,SIGLEC7
 
sanders_11_ASD_discovery_controls-11121.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FUT2,SEC1P
 
sanders_11_ASD_discovery_controls-11176.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FUT2,SEC1P
 
sanders_11_ASD_discovery_controls-11178.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SIGLEC11
 
sanders_11_ASD_discovery_controls-11257.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GPR32P1
 
sanders_11_ASD_discovery_controls-11365.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SIGLEC11
 
sanders_11_ASD_discovery_controls-11494.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NUCB1-AS1,NUCB1,DHDH,TULP2
 
sanders_11_ASD_discovery_controls-11518.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FPR2,FPR3,ZNF577,ZNF649-AS1,ZNF613,ZNF350-AS1,ZNF350,ZNF615,ZNF614,ZNF841,ZNF616,FPR1,ZNF649,ZNF432
 
sanders_11_ASD_discovery_controls-11572.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GPR32P1
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RCN3
 
sanders_11_ASD_discovery_controls-11916.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SIGLEC11
 
sanders_11_ASD_discovery_controls-11986.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12303.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SIGLEC17P,SIGLEC7
 
sanders_11_ASD_discovery_controls-12321.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RCN3
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RCN3
 
sanders_11_ASD_discovery_controls-12969.s1
 
 
  Both parents
  Simplex (quad)
  NA
  FUT2
 
sanders_11_ASD_discovery_controls-13072.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RCN3
 

No Animal Model Data Available
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