18q22.3CNV Type: Deletion-Duplication
Largest CNV size: 719184 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
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.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
268117
0
1
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
360000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
750028
6
4
10
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
590243
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
418987
4
1
5
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
782626
1
0
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
217000
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
1408710
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
22517
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
28226
0
1
1
larson_17_ASD_discovery_cases
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
85627
0
1
1
lob_24_ASD_discovery_cases
Patients with ASD whose electronic medical records (EMRs) were queried from April 1, 2015 through March 31, 2020 and who had at least one genetic testing result documented in their chart; study completed at the Children's Neurodevelopmental Center, Hasbro Children's Hospital, Providence, RI.
523
Cases diagnosed with ASD (ICD-10 code F.84), with the majority of diagnoses made using the ADOS-2 followed by CARS.
Range, 1-18 yrs.
76.67% Male
255348
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
48124
1
0
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)
87700
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
85000
1
0
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)
85024
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
719184
16
3
19
schuch_19_ASD_discovery_cases
Childen of European descent diagnosed with idiopathic ASD
40
Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
Mean, 7.83 2.95 yrs.
90.00% Male
709000
1
0
1
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
5100000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
360000
0
0
0
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
369534
4
5
9
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.
782626
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
4360
0
1
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
1593
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
85627
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
711488
18
3
21
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
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)
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
lob_24_ASD_discovery_cases
United States
CMA
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
schuch_19_ASD_discovery_cases
European
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
None
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
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
None
larson_17_ASD_discovery_controls
N/A
N/A
N/A
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chaves_19_ASD/DD/ID_discovery_cases-case384
2 yrs.
M
Motor delay
Motor delay, chronic encephalopathy, spastic quadriparesis
75043526
75311642
268117
GRCh38
Duplication
No
christian_08_ASD_discovery_cases-AU061103
NA
M
ASD
NA
NA
73778049
74135651
357603
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case13047_563
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72076054
72112806
36753
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13185_2023
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73577457
73614958
37502
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14058_1000
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73559188
73929870
370683
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14058_1000
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73969827
74697126
727300
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14255_3780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
74381845
74596354
214510
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14415_5240
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71703638
72052631
348994
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4022_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73577457
73675648
98192
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6185_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72198829
72229443
30615
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6265_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71566334
71607072
40739
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8457_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
74939891
75017015
77125
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0004175
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the father (mother unknown).
74518948
75064469
545522
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU017703
Autism
68192182
68323663
131482
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU017704
Autism
68192182
68323663
131482
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU026404
Autism
67197102
67360110
163009
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU061103
Autism
69574261
69993247
418987
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU082203
Autism
68192182
68276951
84770
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si173
10
M
Autism
ADOS score: 7. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
73221299
74003925
782627
GRCh38
Deletion
No
hnoonual_17_ASD_discovery_cases-caseAR12-3
N/A
M
ASD
Abnormal hearing test
74519169
74692440
173272
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004978
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72267740
73676450
1408711
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12656.p1
N/A
M
ASD
ASD proband from SSC quad family 12656. SRS score of 83.
Full-scale IQ (FSIQ) score of 40.
72749027
72750620
1594
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12869.p1
N/A
F
ASD
ASD proband from SSC quad family 12869. SRS score of 90.
Full-scale IQ (FSIQ) score of 31.
74562046
74584562
22517
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12869.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
74556337
74584562
28226
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case108
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.
74355925
74441552
85628
GRCh38
Duplication
No
lob_24_ASD_discovery_cases-caseASD260
ASD, ADHD, and developmental delay
Case diagnosed with ASD (ICD-10 code F.84) and also presented with low-hanging columella, long and narrow nasal ridge, almond-shaped eyes, upslanting palpebral fissures, hypertelorism, persistent fetal finger pads, clinodactyly, bilateral single palmar crease, global developmental delay, aggression, self-injurious behavior, sensory processing disorder, ADHD, and motor stereotypies (this individual has a pathogenic de novo frameshift variant in the TCF4 gene).
74376935
74632282
255348
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0138-000
NA
M
ASD
NA
NA
73464246
73512369
48124
GRCh38
Deletion
Yes
morrow_08_ASD_discovery_cases-case8501
NA
ASD
NA
NA
67442000
67530000
87700
Unknown
Deletion
No
nava_13_ASD_discovery_cases-Fam962Proband10755
N/A
M
ASD
Additional clinical profile info N/A
ID
73303620
73388494
84875
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case00HI1252A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU061103; NDAR ID NDAR_INVCV125NHC)
74073459
74158482
85024
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
72518768
72530136
11369
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11008.p1
15.3
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
71576503
71623910
47408
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11013.p1
10
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 137; verbal IQ, 119
71275327
71292325
16999
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11038.p1
7.6
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
73267432
73986616
719185
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11039.p1
6.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
72965464
72973983
8520
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
74952868
74980979
28112
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
71927163
71938158
10996
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11359.p1
5.5
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
71761320
71771837
10518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
71761320
71771837
10518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
74893672
74901371
7700
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
74138268
74149043
10776
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
73052868
73600607
547740
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
73130691
73159374
28684
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12437.p1
10.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 78; verbal IQ, 72
71357888
71432372
74485
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12457.p1
9.6
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
71761320
71771837
10518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12572.p1
14.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
74138268
74151590
13323
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
72731151
72744915
13765
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12758.p1
11.3
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
71761320
71771837
10518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12869.p1
5.2
F
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
74558754
74599610
40857
GRCh38
Duplication
No
schuch_19_ASD_discovery_cases-case10
N/A
M
ASD
Autism, psychomotor agitation, self-injurious behavior, echolalia, sleep disturbance.
72715405
73424739
709335
GRCh38
Deletion
No
willemsen_12_DD/ID_discovery_cases-case35
F
Intellectual disability
Acoustic canal atresia, multiple congenital anomalies (MCA)
Intellectual disability
NA
NA
5100000
NCBI36
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-controlB264147_1007873345
N/A
N/A
Control
No previous psychiatric history
71425315
71515152
89838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB385260_1007874854
N/A
N/A
Control
No previous psychiatric history
71737508
72107043
369536
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB400963_1007854338
N/A
N/A
Control
No previous psychiatric history
73387675
73580302
192628
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB585576_1007875272
N/A
N/A
Control
No previous psychiatric history
71530317
71591931
61615
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB614872_1007874936
N/A
N/A
Control
No previous psychiatric history
71290725
71375905
85181
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB722309_1007852935
N/A
N/A
Control
No previous psychiatric history
74419366
74471994
52629
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB732747_1007844461
N/A
N/A
Control
No previous psychiatric history
73572346
73641178
68833
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900839_900839
N/A
N/A
Control
No previous psychiatric history
73756046
73829693
73648
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902714_902714
N/A
N/A
Control
No previous psychiatric history
72198829
72260778
61950
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split444
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
71172917
71177276
4360
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12656.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12656. SRS score of 35.
72749027
72750620
1594
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11013.s1
7.4
M
Control (matched sibling)
NA
NA
71275327
71292325
16999
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11038.s1
6.5
F
Control (matched sibling)
NA
NA
73270340
73981828
711489
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11049.s1
9.8
F
Control (matched sibling)
NA
NA
71761320
71771837
10518
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
71756164
71771837
15674
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11212.s1
19.2
F
Control (matched sibling)
NA
NA
71499936
71514049
14114
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
74952868
74981925
29058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11277.s1
7.2
F
Control (matched sibling)
NA
NA
71927163
71938158
10996
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
74143107
74149043
5937
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
71576503
71607072
30570
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
74893672
74901371
7700
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11969.s1
17.5
M
Control (matched sibling)
NA
NA
72076054
72089297
13244
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12091.s1
7.2
M
Control (matched sibling)
NA
NA
72183310
72250558
67249
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
73052868
73600607
547740
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12121.s1
6.5
F
Control (matched sibling)
NA
NA
73130691
73159374
28684
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12597.s1
5.3
F
Control (matched sibling)
NA
NA
72071804
72089297
17494
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
71761320
71771837
10518
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
72735518
72744915
9398
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12685.s1
12.8
F
Control (matched sibling)
NA
NA
74947470
74980979
33510
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12708.s1
11.8
F
Control (matched sibling)
NA
NA
71761320
71771837
10518
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12758.s1
9.6
F
Control (matched sibling)
NA
NA
71761320
71771837
10518
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
72071804
72089297
17494
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_19_ASD/DD/ID_discovery_cases-case384
Unknown
ZADH2,ZNF407,TSHZ1
christian_08_ASD_discovery_cases-AU061103
FISH, microsatellite, qPCR
inherited
Multiplex
NA
FBXO15
engchuan_15_ASD_discovery_cases-case13047_563
Unknown
engchuan_15_ASD_discovery_cases-case13185_2023
Unknown
engchuan_15_ASD_discovery_cases-case14058_1000
Unknown
RN7SL401P
engchuan_15_ASD_discovery_cases-case14058_1000
Unknown
RN7SL551P,FAUP1,LINC01922,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,C18orf63,CNDP1,ZNF407
engchuan_15_ASD_discovery_cases-case14255_3780
Unknown
FAUP1,LINC01922,CNDP2,LINC00909,CNDP1
engchuan_15_ASD_discovery_cases-case14415_5240
Unknown
LINC01899
engchuan_15_ASD_discovery_cases-case4022_1
Unknown
engchuan_15_ASD_discovery_cases-case6185_5
Unknown
engchuan_15_ASD_discovery_cases-case6265_3
Unknown
LINC01541
engchuan_15_ASD_discovery_cases-case8457_202
Unknown
ZNF407
feliciano_19_ASD_discovery_cases-caseSP0004175
Maternal
CNDP2,LINC00909,CNDP1,ZNF407
null
gai_11_ASD_replication_cases-AU017703
Inherited
0 genes
gai_11_ASD_replication_cases-AU017704
Inherited
0 genes
gai_11_ASD_replication_cases-AU026404
Inherited
0 genes
gai_11_ASD_replication_cases-AU061103
Inherited
FBXO15, C18orf55
gai_11_ASD_replication_cases-AU082203
Inherited
0 genes
girirajan_11_ASD_discovery_cases-Si173
Maternal
Simplex
RN7SL401P,LINC02582
hnoonual_17_ASD_discovery_cases-caseAR12-3
De novo
CNDP2,LINC00909,CNDP1,ZNF407
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004978
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
HNRNPA1P11,RNA5SP460,MIR548AV,LINC02582,CBLN2,NETO1
krumm_13_ASD_discovery_cases-case12656.p1
Paternal
Simplex
Not segregated
NETO1
krumm_13_ASD_discovery_cases-case12869.p1
Paternal
Simplex
Segregated
CNDP1
krumm_15_ASD_discovery_cases-case12869.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CNDP1
larson_17_ASD_discovery_cases-case108
Unknown
Unknown
FAUP1,LINC01922,C18orf63
lob_24_ASD_discovery_cases-caseASD260
Unknown
CNDP2,ZNF407,CNDP1,DIPK1C,FAUP1,ZNF407-AS1,LINC01922
marshall_08_ASD_discovery_cases-NA0138-000
qPCR, qmPCR
Unknown
NA
NA
morrow_08_ASD_discovery_cases-case8501
Maternal
NA
NA
3' end of CBLN2
nava_13_ASD_discovery_cases-Fam962Proband10755
Unknown
Simplex
Unknown
LINC02582
poultney_13_ASD_discovery_cases-case00HI1252A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FBXO15,TIMM21
sanders_11_ASD_discovery_cases-11001.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11008.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC01541
sanders_11_ASD_discovery_cases-11013.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11038.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL401P,LINC02582
sanders_11_ASD_discovery_cases-11039.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11227.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF407
sanders_11_ASD_discovery_cases-11277.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11359.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01899
sanders_11_ASD_discovery_cases-11599.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01899
sanders_11_ASD_discovery_cases-11753.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF407
sanders_11_ASD_discovery_cases-12052.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FBXO15,TIMM21
sanders_11_ASD_discovery_cases-12106.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02582
sanders_11_ASD_discovery_cases-12121.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12437.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12457.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01899
sanders_11_ASD_discovery_cases-12572.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FBXO15,TIMM21
sanders_11_ASD_discovery_cases-12656.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NETO1
sanders_11_ASD_discovery_cases-12758.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01899
sanders_11_ASD_discovery_cases-12869.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
LINC00909,CNDP1,ZNF407
schuch_19_ASD_discovery_cases-case10
Unknown
Unknown
Unknown
RNA5SP460,MIR548AV,LINC02582,NETO1
willemsen_12_DD/ID_discovery_cases-case35
De novo
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB264147_1007873345
Unknown
engchuan_15_ASD_discovery_controls-controlB385260_1007874854
Unknown
LINC01899
engchuan_15_ASD_discovery_controls-controlB400963_1007854338
Unknown
engchuan_15_ASD_discovery_controls-controlB585576_1007875272
Unknown
LINC01541
engchuan_15_ASD_discovery_controls-controlB614872_1007874936
Unknown
engchuan_15_ASD_discovery_controls-controlB722309_1007852935
Unknown
engchuan_15_ASD_discovery_controls-controlB732747_1007844461
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900839_900839
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902714_902714
Unknown
kanduri_15_ASD_discovery_controls-control_split444
Unknown
Intergenic CNV: nearest genes, LOC100505817(dist=155793),FBXO15(dist=563312)
krumm_13_ASD_discovery_controls-control12656.s1
Solid phase hybridization (Illumina 1M)
Paternal
Simplex
NETO1
sanders_11_ASD_discovery_controls-11013.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11038.s1
Maternal
Simplex (quad)
NA
RN7SL401P,LINC02582
sanders_11_ASD_discovery_controls-11049.s1
Paternal
Simplex (quad)
NA
LINC01899
sanders_11_ASD_discovery_controls-11101.s1
Maternal
Simplex (quad)
NA
LINC01899
sanders_11_ASD_discovery_controls-11212.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11227.s1
Maternal
Simplex (quad)
NA
ZNF407
sanders_11_ASD_discovery_controls-11277.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11567.s1
Maternal
Simplex (quad)
NA
FBXO15,TIMM21
sanders_11_ASD_discovery_controls-11722.s1
Paternal
Simplex (quad)
NA
LINC01541
sanders_11_ASD_discovery_controls-11753.s1
Maternal
Simplex (quad)
NA
ZNF407
sanders_11_ASD_discovery_controls-11969.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12091.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12106.s1
Maternal
Simplex (quad)
NA
LINC02582
sanders_11_ASD_discovery_controls-12121.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12597.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12652.s1
Paternal
Simplex (quad)
NA
LINC01899
sanders_11_ASD_discovery_controls-12656.s1
Paternal
Simplex (quad)
NA
NETO1
sanders_11_ASD_discovery_controls-12685.s1
Maternal
Simplex (quad)
NA
ZNF407
sanders_11_ASD_discovery_controls-12708.s1
Maternal
Simplex (quad)
NA
LINC01899
sanders_11_ASD_discovery_controls-12758.s1
Maternal
Simplex (quad)
NA
LINC01899
sanders_11_ASD_discovery_controls-13048.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available