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11p15.1CNV Type: Deletion-Duplication


Largest CNV size: 305241 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
N/A
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
NA
Deletion
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
 1582
 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
 235
 1
 0
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 24212
 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
 305240
 1
 1
 2
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 372000
 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
 1769415
 1
 0
 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
 2479
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 327990
 N/A
 N/A
 3
 larson_17_ASD_discovery_cases
  NA NA
 Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
 116
 All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
 N/A
 N/A
 209356
 1
 0
 1
 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
 1500000
 0
 2
 2
 morrow_08_ASD_discovery_cases
 Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
 94
 ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
 
 
 26500
 3
 0
 3
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 18137
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 305241
 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)
 221783
 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
 33014
 2
 2
 4
 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
 166673
 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
 32106
 5
 1
 6
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 34721
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 388822
 2
 2
 4
 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
 64074
 2
 0
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 138302
 1
 1
 2
 larson_17_ASD_discovery_controls
  NA NA
 Entries listed in the Database of Genomic Variants (up to October 2017)
 N/A
 Control
 N/A
 N/A
 209356
 1
 0
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 14029
 2
 0
 2
 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)
 18463
 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)
 33014
 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.
 
 179271
 4
 0
 4
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 34721
 N/A
 N/A
 N/A

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
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 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)
 larson_17_ASD_discovery_cases
  United Kingdom
 Array SNP
  Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
 SNP-FASST2 Segmentation
 Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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)
  larson_17_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  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
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  None

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-caseSSC06722
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 19709745
 19711327
  1583
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11189
 NA
 M
 ASD
 NA
 NA
 17428469
 17428704
  236
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU021903
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: Sotos syndrome
 
 18894043
 18918255
  24212
 Unknown
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1050_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 16994010
 17299250
  305241
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3030_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19264365
 19307767
  43403
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13616.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 17391877
 17761877
  370001
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 17905089
 19674505
  1769417
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11667.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11667. SRS score of 78.
 Full-scale IQ (FSIQ) score of 53.
 18705816
 18708295
  2480
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11667.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 18705816
 18708295
  2480
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13616.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 17392990
 17720980
  327991
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14040.p1
 N/A
 N/A
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type:
 
 20054079
 20056631
  2553
 GRCh38
 N/A
 Yes
  larson_17_ASD_discovery_cases-case85
  NA NA
 N/A
 N/A
 ASD and psychosis
 No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
 
 20986433
 21195789
  209357
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown10
  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)
 
 17330889
 17436565
  105677
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown11
  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)
 
 18325067
 19884377
  1559311
 GRCh38
 Duplication
 No
  morrow_08_ASD_discovery_cases-case11401
 NA
 
 ASD
 NA
 NA
 18906000
 18928000
  21800
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case6701
 NA
 
 ASD
 NA
 NA
 18885000
 18911000
  26500
 Unknown
 Deletion
 No
  morrow_08_ASD_discovery_cases-case7501
 NA
 
 ASD
 NA
 NA
 18906000
 18928000
  21800
 Unknown
 Deletion
 No
  nord_11_ASD_discovery_cases-304-1
 
 
 ASD
 
 
 18562081
 18580217
  18137
 Unknown
 Deletion
 No
  pinto_10_ASD_discovery_cases-case1050_3
 NA
 F
 Autism
 Verbal
 No MR
 16994010
 17299250
  305241
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case99HI1157A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU013303; NDAR ID N/A)
 
 17074431
 17296213
  221783
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case121571
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 18548115
 18579659
  31545
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case59911L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 17219186
 17248592
  29407
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case61384
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 18565088
 18578176
  13089
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case92812
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 21458435
 21491448
  33014
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-003a1
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 19036904
 19203576
  166673
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11033.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
 21167479
 21196273
  28795
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11440.p1
 8.2
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
 17245482
 17269952
  24471
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11549.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
 21167479
 21195306
  27828
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12180.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
 21167479
 21195306
  27828
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12221.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
 21167479
 21195306
  27828
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12661.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
 21167479
 21199585
  32107
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case1-0045-004
 N/A
 M
 ASD
 N/A
 N/A
 17105348
 17140068
  34721
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-control110036018653_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21305613
  21463194
  157582
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB400963_1007854338
  N/A
  N/A
  Control
  No previous psychiatric history
 
  17000483
  17299250
  298768
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB538534_1007854364
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20680488
  20726035
  45548
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901263_901263
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20652321
  21041143
  388823
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11667.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11667. SRS score of 45.
 
  18705816
  18708295
  2480
  GRCh38
  Deletion
  Yes
  krumm_13_ASD_discovery_controls-control12512.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12512. SRS score of 38.
 
  20783679
  20847753
  64075
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control12512.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  20783679
  20885544
  101866
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13616.s2
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  17392990
  17531292
  138303
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C27075
 
 
  Control
 
 
  18563533
  18577561
  14029
  Unknown
  Deletion
 
  nord_11_ASD_discovery_controls-04C27344
 
 
  Control
 
 
  20692130
  20704508
  12379
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control04C29036A
  N/A
  M
  Control
  NIMH Control (NIMH ID 93336)
 
  18396841
  18415303
  18463
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  21167479
  21199585
  32107
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11114.s1
  11.6
  F
  Control (matched sibling)
  NA
  NA
  18587464
  18607757
  20294
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12180.s1
  21.4
  F
  Control (matched sibling)
  NA
  NA
  21167479
  21195306
  27828
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12512.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  20709797
  20889068
  179272
  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-caseSSC06722
 PCR or SNP data validation
 
 Maternal
 
 
 NAV2
 
 celestino-soper_11_ASD_discovery_cases-11189
 
 
 Unknown
 Simplex
 NA
 ABCC8
 
 davis_09_ASD_discovery_cases-AU021903
 
 
 Unknown
 Unknown
 Unknown
 MRGPRX1
 
 engchuan_15_ASD_discovery_cases-case1050_3
 
 
 Unknown
 
 
 RPS13,SNORD14A,SNORD14B,RNU6-593P,PLEKHA7,OR7E14P,PIK3C2A,NUCB2
 
 engchuan_15_ASD_discovery_cases-case3030_3
 
 
 Unknown
 
 
 PCNAP4
 
 girirajan_13a_ASD_discovery_cases-13616.p1
 
 
 Unknown
 Simplex
 Unknown
 SDHCP4,MYOD1,USH1C,ABCC8,OTOG,KCNC1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HIGD1AP5,SAA3P,MRGPRX4,GLTPP1,SAA2,RNA5SP333,ST13P5,RNA5SP334,MIR3159,YWHABP2,MRGPRX1,PCNAP4,RNA5SP335,NAV2-AS5,MIR4486,TPH1,MRGPRX3,SAA4,SAA2-SAA4,SAA1,HPS5,LDHA,LDHC,LDHAL6A,UEVLD,SPTY2D1OS,TMEM86A,IGSF22,MRGPRX2,CSRP3,E2F8,NAV2-IT1,NAV2-AS4,SAAL1,GTF2H1,TSG101,SPTY2D1,PTPN5,ZDHHC13,SERGEF,NAV2
 
 krumm_13_ASD_discovery_cases-case11667.p1
 aCGH (Agilent SurePrint G3 4x180K)
 
 Maternal
 Simplex
 Not segregated
 IGSF22
 
 krumm_15_ASD_discovery_cases-case11667.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 IGSF22
 
 krumm_15_ASD_discovery_cases-case13616.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SDHCP4,MYOD1,USH1C,ABCC8,OTOG
 
 krumm_15_ASD_discovery_cases-case14040.p1
 aCGH
 
 Maternal
 Simplex
 Unknown
 NAV2
 
 larson_17_ASD_discovery_cases-case85
 
 
 Unknown
 
 Unknown
 RNA5SP336,NELL1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown10
 
 
 Paternal
 Unknown
 Unknown
 KCNJ11,SDHCP4,NCR3LG1,NUCB2,ABCC8
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown11
 
 
 Maternal
 Unknown
 Unknown
 MIR3159,YWHABP2,MRGPRX1,PCNAP4,RNA5SP335,NAV2-AS5,MIR4486,MIR4694,LDHA,LDHC,LDHAL6A,UEVLD,SPTY2D1OS,TMEM86A,IGSF22,MRGPRX2,CSRP3,E2F8,NAV2-IT1,NAV2-AS4,GTF2H1,TSG101,SPTY2D1,PTPN5,ZDHHC13,NAV2
 
 morrow_08_ASD_discovery_cases-case11401
 
 
 Paternal
 NA
 NA
 MRGPRX1
 
 morrow_08_ASD_discovery_cases-case6701
 
 
 Paternal
 NA
 NA
 MRGPRX1
 
 morrow_08_ASD_discovery_cases-case7501
 
 
 Maternal
 NA
 NA
 MRGPRX1
 
 nord_11_ASD_discovery_cases-304-1
 
 
 Paternal
 
 
 UEVLD
 
 pinto_10_ASD_discovery_cases-case1050_3
 Illumina550;Affy5.0
 
 maternal
 NA
 NA
 RPS13,SNORD14A,SNORD14B,RNU6-593P,PLEKHA7,OR7E14P,PIK3C2A,NUCB2
 
 poultney_13_ASD_discovery_cases-case99HI1157A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RPS13,SNORD14A,SNORD14B,RNU6-593P,PIK3C2A,NUCB2
 
 prasad_12_ASD_discovery_cases-case121571
 
 
 Unknown
 Unknown
 Unknown
 UEVLD
 
 prasad_12_ASD_discovery_cases-case59911L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case61384
 
 
 Unknown
 Unknown
 Unknown
 UEVLD
 
 prasad_12_ASD_discovery_cases-case92812
 
 
 Unknown
 Unknown
 Unknown
 NELL1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-003a1
 qPCR
 
 Maternal
 Unknown
 Unknown
 MRGPRX2,CSRP3,ZDHHC13
 
 sanders_11_ASD_discovery_cases-11033.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 NELL1
 
 sanders_11_ASD_discovery_cases-11440.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 NUCB2
 
 sanders_11_ASD_discovery_cases-11549.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NELL1
 
 sanders_11_ASD_discovery_cases-12180.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NELL1
 
 sanders_11_ASD_discovery_cases-12221.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 NELL1
 
 sanders_11_ASD_discovery_cases-12661.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 NELL1
 
 walker_13_ASD_discovery_cases-case1-0045-004
 
 
 Unknown
 Multiplex
 Unknown
 RNU6-593P,PIK3C2A
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036018653_
 
 
  Unknown
 
 
  RNA5SP337,NELL1
 
engchuan_15_ASD_discovery_controls-controlB400963_1007854338
 
 
  Unknown
 
 
  RPS13,SNORD14A,SNORD14B,RNU6-593P,PLEKHA7,OR7E14P,PIK3C2A,NUCB2
 
engchuan_15_ASD_discovery_controls-controlB538534_1007854364
 
 
  Unknown
 
 
  NELL1
 
engchuan_15_ASD_discovery_controls-controlHABC_901263_901263
 
 
  Unknown
 
 
  RNA5SP336,SLC6A5,NELL1
 
krumm_13_ASD_discovery_controls-control11667.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  IGSF22
 
krumm_13_ASD_discovery_controls-control12512.s1
 
 
  Paternal
  Simplex
 
  NELL1
 
krumm_15_ASD_discovery_controls-control12512.s1
  Illumina 1MDuo
 
  Paternal
 
 
  NELL1
 
krumm_15_ASD_discovery_controls-control13616.s2
  1M-Duov3
 
  Maternal
 
 
  SDHCP4,USH1C,ABCC8
 
nord_11_ASD_discovery_controls-04C27075
 
 
 
 
 
  UEVLD
 
nord_11_ASD_discovery_controls-04C27344
 
 
 
 
 
  NELL1
 
poultney_13_ASD_discovery_controls-control04C29036A
 
 
  Unknown
 
 
  LDHA,LDHC
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Both parents
  Simplex (quad)
  NA
  NELL1
 
sanders_11_ASD_discovery_controls-11114.s1
 
 
  Paternal
  Simplex (quad)
  NA
  UEVLD,SPTY2D1OS,SPTY2D1
 
sanders_11_ASD_discovery_controls-12180.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NELL1
 
sanders_11_ASD_discovery_controls-12512.s1
 
 
  Paternal
  Simplex (quad)
  NA
  NELL1
 

No Animal Model Data Available
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