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9p24.2CNV Type: Deletion-Duplication


Largest CNV size: 155588 bp

Statistics Box:
Number of Reports: 14


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Genome-wide characteristics of de novo mutations in autism
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
NA
Deletion
Comorbidities associated with genetic abnormalities in children with intellectual disability
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_21_ASD/DD/ID_discovery_cases
 Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019
 61
 Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.
 Range, 3-18 yrs. (median, 6 yrs.)
 60.7% Male
 25327
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 126000
 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
 163217
 6
 1
 7
 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
 702730
 0
 2
 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
 416460
 4
 1
 5
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 215433
 1
 1
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 153033
 0
 1
 1
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 357857
 0
 1
 1
 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)
 
 
 39000
 1
 0
 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
 11848
 4
 0
 4
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 1514702
 0
 1
 1
 rosenfeld_10_non-ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 0
 7
 7
 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
 155588
 13
 4
 17
 tabet_15_ASD_discovery_cases
 ASD cases carrying apparently balanced chromosomal abnormalities: 12 from the Paris Autism Research International Study (PARIS) family dataset, 6 referred by network of French cytogeneticists
 18
 All cases diagnosed with ASD: 16 cases fulfilled DSM-IV criteria for autistic disorder, 2 cases with previous diagnosis of ASD but that could not be formally evaluated for ASD in this study. DISCO-10, ADI-R, and/or ADOS used to evaluate patients.
 Range, 4-30 years
 77.78% Male
 179084
 1
 0
 1
 yuen_16_ASD_discovery_cases
 Cases from unrelated trio families from a cohort of Canadian ASD families
 200
 Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
 N/A
 N/A
 356056
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_controls
  NA NA
 Anonymized DNA samples from Italian individuals with no psychiatric disorders
 365
 Control
 N/A
 54.52% Male
 273993
 0
 1
 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
 163217
 6
 3
 9
 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_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 194479
 0
 2
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 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)
 11848
 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.
 
 143314
 11
 2
 13
 yuen_16_ASD_discovery_controls
 CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chen_21_ASD/DD/ID_discovery_cases
  Taiwan
 CMA
  CytoOne Array (Phalanx Biotech)
 CBS
 MATLAB v.R2009a
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 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
 aCGH (NimbleGen 135K array)
 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_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
 
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 morrow_08_ASD_discovery_cases
  Arabic Middle East, Turkey, and Pakistan
 Array SNP
  Affymetrix 500K
 BRLMM
 dChip
 
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 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
 
 
 tabet_15_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina Human CNV370-Duo BeadChip
 Illumina CNV Partition (v1.3.2 or v2.4.4)
 Illumina Bead Studio v3.2
 qPCR
 yuen_16_ASD_discovery_cases
  Canada
 N/A
  High-resolution microarray platform
 
 Segseq, ERDS
 qPCR, Sanger sequencing

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  bacchelli_20_ASD_discovery_controls
  Italian
  Solid phase hybridization
  Illumina Infinium PsychArray
  PennCNV, QuantiSNP, CNVPartition
 
  None
  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_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
 
 
  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
 
 
  yuen_16_ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  chen_21_ASD/DD/ID_discovery_cases-case39
 NA
 NA
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability
 3454536
 3479862
  25327
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299980
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 CNV locus reported as 9p24.1 in the report
 
 3098538
 3224927
  126390
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13003_43
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4493526
 4524549
  31024
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18188_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2482283
 2571403
  89121
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3308_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2723657
 2765753
  42097
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3450_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2253678
 2416895
  163218
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6329_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4410854
 4447601
  36748
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6365_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 2574919
 2610307
  35389
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8619_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 4378727
 4413449
  34723
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13572.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
 4471017
 4745859
  274843
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-14363.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
 4323244
 5025973
  702730
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000925
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2267812
 2684272
  416461
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001176
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2324333
 2501030
  176698
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001902
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2682523
 2784028
  101506
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002529
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2452325
 2700375
  248051
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002631
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 3288211
 3545454
  257244
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13572.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4490679
 4706112
  215434
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14310.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4595042
 4625566
  30525
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11491.p1
 NA
 M
 ASD
 NA
 NA
 4204580
 4357612
  153033
 GRCh38
 Duplication
 No
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case32
 23 yrs
 M
 ASD
 Autism/autistic behavior (Asperger), structural brain anomaly. Family history: apparently normal mother (has deletion)
 
 4334031
 4691887
  357857
 GRCh38
 Duplication
 No
  morrow_08_ASD_discovery_cases-case5101
 NA
 
 ASD
 NA
 NA
 2217000
 2256000
  39000
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case126173
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 3998836
 4010683
  11848
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case146454L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 4339222
 4350233
  11012
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case160944
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 4499567
 4507420
  7854
 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
 
 4499567
 4507420
  7854
 Unknown
 Deletion
 No
  rosenfeld_10_ASD_discovery_cases-case12715
 NA
 NA
 ASD
 NA
 NA
 2922366
 4437068
  1514702
 Unknown
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11048.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
 4423007
 4438585
  15579
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13.9
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 2431445
 2442052
  10608
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11111.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ 100
 4509590
 4517894
  8305
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11390.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
 4526796
 4529671
  2876
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11393.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
 4202667
 4356048
  153382
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11462.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 117; verbal IQ, 121
 3202370
 3208516
  6147
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11491.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
 4202667
 4358255
  155589
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11681.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
 4265363
 4272449
  7087
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11808.p1
 8.8
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
 3103419
 3140096
  36678
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12029.p1
 8.6
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 108; verbal IQ, 94
 4045796
 4050630
  4835
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12334.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 2904934
 2933171
  28238
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12438.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
 2756756
 2772476
  15721
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12565.p1
 10.6
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 4510926
 4517894
  6969
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12587.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
 2742771
 2790307
  47537
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12655.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 64; verbal IQ, 28
 2285443
 2348820
  63378
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12704.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 106
 4509590
 4517894
  8305
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6.7
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 2310691
 2375302
  64612
 GRCh38
 Deletion
 No
  tabet_15_ASD_discovery_cases-case5
 13 yrs.
 F
 Autism
 Diagnosis of autism (ADI-R). Initital karyotype: 46,XX,inv(2)(p12q14.1)dn. Language: non-verbal. Birth and early development: born at 39 weeks, birth weight +0.5 SD, birth height mean, birth OFC +1.9 SD; sat at normal age, walked at 22 months. Body measures: weight +3.5 SD, height +2 SD, and macrocephaly (OFC +4.2 SD) at 13 years. Dysmorphic features: mild dysmorphic features, narrow palpebral fissures, short philtrum, large hands and feet, one cafe-au-lait spot. Other: stereotypies, self-injurious behavior, sleep disturbance, one episode of febrile seizure at 30 months, normal EEG. Brain MRI: Chaiari type I malformation, mild white matter hyperintensities at 9 years. Family history: born to non-consanguineous parents.
 Developmental quotient of 30 (PEP-R, 6 years)
 3334203
 3513286
  179084
 GRCh38
 Deletion
 Yes
  yuen_16_ASD_discovery_cases-sample2-1265-003
 N/A
 N/A
 ASD
 Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
 
 3203067
 3559122
  356056
 GRCh38
 Deletion
 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
  bacchelli_20_ASD_discovery_controls-control10014
  N/A
  M
  Control
  Control
 
  2626851
  2900843
  273993
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036003135_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2253678
  2416895
  163218
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036019040_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4378727
  4443086
  64360
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036024198_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2952757
  3026333
  73577
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB467732_1007842340
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2602831
  2684117
  81287
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900136_900136
  N/A
  N/A
  Control
  No previous psychiatric history
 
  3589867
  3623111
  33245
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900495_900495
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4226155
  4265865
  39711
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901172_901172
  N/A
  N/A
  Control
  No previous psychiatric history
 
  3096420
  3151278
  54859
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902466_902466
  N/A
  N/A
  Control
  No previous psychiatric history
 
  3061261
  3103419
  42159
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902486_902486
  N/A
  N/A
  Control
  No previous psychiatric history
 
  2690980
  2790307
  99328
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control13572.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  4490679
  4685158
  194480
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14042.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  2644956
  2650516
  5561
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11071.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  2431445
  2442052
  10608
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11189.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  4509590
  4517894
  8305
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11347.s1
  17
  M
  Control (matched sibling)
  NA
  NA
  4045796
  4050630
  4835
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11393.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  4202667
  4345981
  143315
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11412.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  4509590
  4517894
  8305
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11616.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  4526796
  4529671
  2876
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11768.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  3427166
  3440355
  13190
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11831.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  4216957
  4236100
  19144
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12029.s1
  12.6
  M
  Control (matched sibling)
  NA
  NA
  4045796
  4050630
  4835
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12157.s1
  12.8
  M
  Control (matched sibling)
  NA
  NA
  2627954
  2630899
  2946
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12334.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  2904934
  2933001
  28068
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12637.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  4509590
  4517894
  8305
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  2310691
  2375302
  64612
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chen_21_ASD/DD/ID_discovery_cases-case39
 
 
 Unknown
 
 
 RFX3
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299980
 
 
 Unknown
 
 
 LINC01231,RFX3
 
 engchuan_15_ASD_discovery_cases-case13003_43
 
 
 Unknown
 
 
 SLC1A1
 
 engchuan_15_ASD_discovery_cases-case18188_301
 
 
 Unknown
 
 
 VLDLR-AS1
 
 engchuan_15_ASD_discovery_cases-case3308_4
 
 
 Unknown
 
 
 KCNV2,PUM3
 
 engchuan_15_ASD_discovery_cases-case3450_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6329_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6365_3
 
 
 Unknown
 
 
 VLDLR-AS1
 
 engchuan_15_ASD_discovery_cases-case8619_201
 
 
 Unknown
 
 
 RNU6-694P
 
 girirajan_13a_ASD_discovery_cases-13572.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 PLPP6,CDC37L1-DT,SLC1A1,CDC37L1,SPATA6L,AK3
 
 girirajan_13a_ASD_discovery_cases-14363.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,SLC1A1,CDC37L1,SPATA6L,AK3,RCL1,JAK2,GLIS3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000925
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 VLDLR,VLDLR-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001176
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 VLDLR-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001902
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 KCNV2,PUM3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002529
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 VLDLR,VLDLR-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002631
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RFX3,RFX3-AS1
 
 krumm_15_ASD_discovery_cases-case13572.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PLPP6,CDC37L1-DT,SLC1A1,CDC37L1,SPATA6L
 
 krumm_15_ASD_discovery_cases-case14310.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SPATA6L
 
 levy_11_ASD_discovery_cases-11491.p1
 
 
 Maternal
 Simplex
 Segregated
 GLIS3
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case32
 
 
 Maternal
 
 
 RNU6-694P,PLPP6,CDC37L1-DT,SLC1A1,CDC37L1,SPATA6L,GLIS3
 
 morrow_08_ASD_discovery_cases-case5101
 
 
 Maternal
 NA
 NA
 3' end of SMARCA2
 
 prasad_12_ASD_discovery_cases-case126173
 
 
 Unknown
 Unknown
 Unknown
 GLIS3
 
 prasad_12_ASD_discovery_cases-case146454L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case160944
 
 
 Unknown
 Unknown
 Unknown
 SLC1A1
 
 prasad_12_ASD_discovery_cases-case59724-L
 
 
 Unknown
 Unknown
 Unknown
 SLC1A1
 
 rosenfeld_10_ASD_discovery_cases-case12715
 FISH
 
 Paternal
 Unknown
 Unknown
 RFX3,GLIS3
 
 sanders_11_ASD_discovery_cases-11048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 VLDLR-AS1
 
 sanders_11_ASD_discovery_cases-11111.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SLC1A1
 
 sanders_11_ASD_discovery_cases-11390.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SLC1A1
 
 sanders_11_ASD_discovery_cases-11393.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GLIS3
 
 sanders_11_ASD_discovery_cases-11462.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11491.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GLIS3
 
 sanders_11_ASD_discovery_cases-11681.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GLIS3
 
 sanders_11_ASD_discovery_cases-11808.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12029.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GLIS3
 
 sanders_11_ASD_discovery_cases-12334.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CARM1P1
 
 sanders_11_ASD_discovery_cases-12438.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PUM3
 
 sanders_11_ASD_discovery_cases-12565.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLC1A1
 
 sanders_11_ASD_discovery_cases-12587.p1
 
 
 Paternal
 Simplex (trio)
 NA
 PUM3
 
 sanders_11_ASD_discovery_cases-12655.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12704.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLC1A1
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 tabet_15_ASD_discovery_cases-case5
 qPCR
 
 De novo
 Simplex
 Segregated
 RFX3
 
 yuen_16_ASD_discovery_cases-sample2-1265-003
 qPCR and/or Sanger sequencing
 
 De novo
 Simplex
 Segregated
 RFX3,RFX3-AS1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10014
 
 
  Unknown
 
 
  GPS2P1,ATP5PDP2,VLDLR,KCNV2,VLDLR-AS1,PUM3
 
engchuan_15_ASD_discovery_controls-control110036003135_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-control110036019040_
 
 
  Unknown
 
 
  RNU6-694P
 
engchuan_15_ASD_discovery_controls-control110036024198_
 
 
  Unknown
 
 
  CARM1P1
 
engchuan_15_ASD_discovery_controls-controlB467732_1007842340
 
 
  Unknown
 
 
  VLDLR,VLDLR-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900136_900136
 
 
  Unknown
 
 
  RFX3-AS1
 
engchuan_15_ASD_discovery_controls-controlHABC_900495_900495
 
 
  Unknown
 
 
  GLIS3
 
engchuan_15_ASD_discovery_controls-controlHABC_901172_901172
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902466_902466
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902486_902486
 
 
  Unknown
 
 
  KCNV2,PUM3
 
krumm_15_ASD_discovery_controls-control13572.s1
  Omni2.5-4v1
 
  Paternal
 
 
  PLPP6,CDC37L1-DT,SLC1A1,CDC37L1,SPATA6L
 
krumm_15_ASD_discovery_controls-control14042.s1
  Omni2.5-4v1
 
  De novo
 
 
  VLDLR
 
sanders_11_ASD_discovery_controls-11071.s1
 
 
  Paternal
  Simplex (quad)
  NA
  VLDLR-AS1
 
sanders_11_ASD_discovery_controls-11189.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC1A1
 
sanders_11_ASD_discovery_controls-11347.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GLIS3
 
sanders_11_ASD_discovery_controls-11393.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GLIS3
 
sanders_11_ASD_discovery_controls-11412.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC1A1
 
sanders_11_ASD_discovery_controls-11616.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC1A1
 
sanders_11_ASD_discovery_controls-11768.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RFX3
 
sanders_11_ASD_discovery_controls-11831.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GLIS3
 
sanders_11_ASD_discovery_controls-12029.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GLIS3
 
sanders_11_ASD_discovery_controls-12157.s1
 
 
  Unknown
  Simplex (quad)
  NA
  VLDLR,VLDLR-AS1
 
sanders_11_ASD_discovery_controls-12334.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CARM1P1
 
sanders_11_ASD_discovery_controls-12637.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLC1A1
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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