3q28CNV Type: Deletion-Duplication
Largest CNV size: 90590 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
47867
2
1
3
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
69348
1
1
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
1404530
1
1
2
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
4593
0
1
1
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
428400
1
0
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
120402
2
0
2
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
32000
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
159000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
51658
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
31318
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
28179
2
0
2
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
90590
12
2
14
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
518000
0
1
1
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
217145
0
1
1
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
233526
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
4543
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
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
6451
0
1
1
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
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.
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)
28179
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.
47906
14
2
16
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
217145
N/A
N/A
N/A
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
4543
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
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
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
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
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
egger_14_ASD_discovery_cases-caseA184
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
191424417
191472283
47867
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA217
10 yrs. (born 2004)
M
ASD
Diagnosis: high functioning autism. Co-morbidities/additional features: none reported. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Normal IQ
192214710
192227337
12628
GRCh38
Duplication
No
egger_14_ASD_discovery_cases-caseA217
10 yrs. (born 2004)
M
ASD
Diagnosis: high functioning autism. Co-morbidities/additional features: none reported. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Normal IQ
192230063
192251948
21886
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0973301
Autism
189495632
189564979
69348
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1234303
Autism
192522868
192580259
57392
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002142
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
190233992
190498928
264937
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004663
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
188362559
189767088
1404530
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case2991
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
191065392
191069984
4593
Unknown
Duplication
No
kousoulidou_13_ASD_discovery_cases-patient12
N/A
F
ID and autistic features
Autistic features
Intellectual disability
188299158
188727586
428429
GRCh38
Deletion
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0915
65 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 19 years of age (core symptoms include auditory hallucinations, manic symptoms), mood symptoms. Brain imaging: lateral ventricular enlargement on brain CT. Family history: negative.
IQ > 70
188420063
188540464
120402
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1326
76 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
188343948
188435451
91504
GRCh38
Deletion
N/A
lesca_12_EP_discovery_cases-case025a
NA
M
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: Awake, nocturnal. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes.
188779148
188811242
32095
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam711Proband8760
N/A
M
ASD
Additional clinical profile info N/A
ID
191083934
191243367
159434
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-204-1
ASD
193419356
193471013
51658
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case5529_3
NA
M
ASD
NA
NA
192346491
192377808
31318
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case122685L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
192351480
192379658
28179
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154265L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
189482010
189498454
16445
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11029.p1
9.3
F
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
189638432
189648974
10543
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11378.p1
9.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
192270110
192278990
8881
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11413.p1
13.4
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 104; verbal IQ, 102
192587419
192594481
7063
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11422.p1
6.1
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
190008905
190099495
90591
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11550.p1
8.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
190020362
190026832
6471
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
190971458
190972405
948
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11888.p1
4
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
188769242
188817148
47907
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
188769242
188817148
47907
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12162.p1
4.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
190031794
190034032
2239
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
192271056
192278413
7358
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
190969670
190977610
7941
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12312.p1
5.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
191937742
191941554
3813
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12610.p1
5.4
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
190971458
190972405
948
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12859.p1
4.3
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 56; verbal IQ, 40
190971458
190972405
948
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case44
6 yrs.
F
ASD
ASD, Dysmorphism
191695970
192214110
518141
GRCh38
Duplication
No
walker_13_ASD_discovery_cases-case8-14175-2820
N/A
M
ASD
N/A
N/A
190660826
190877971
217146
GRCh38
Duplication
No
yingjun_17_ASD_discovery_cases-case9266
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
188615050
188848576
233527
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case158
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
188351542
188356084
4543
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kanduri_15_ASD_discovery_controls-control_split384
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
189732606
189739056
6451
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11181.s1
4.3
F
Control (matched sibling)
NA
NA
192587419
192594481
7063
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
192271056
192275642
4587
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11327.s1
9.5
F
Control (matched sibling)
NA
NA
192587419
192594481
7063
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11391.s1
18.1
M
Control (matched sibling)
NA
NA
191925602
191950256
24655
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11396.s1
6.6
M
Control (matched sibling)
NA
NA
191937742
191941554
3813
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11429.s1
18.6
M
Control (matched sibling)
NA
NA
191937742
191950256
12515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11489.s1
15.8
M
Control (matched sibling)
NA
NA
191937742
191950256
12515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11550.s1
6.6
F
Control (matched sibling)
NA
NA
190020362
190026832
6471
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
190971458
190972405
948
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11888.s1
9.6
M
Control (matched sibling)
NA
NA
188769242
188817148
47907
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11939.s1
12.4
M
Control (matched sibling)
NA
NA
192271056
192275642
4587
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
190028672
190037442
8771
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
190971458
190972405
948
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12741.s1
5.9
M
Control (matched sibling)
NA
NA
191067323
191068670
1348
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
191937742
191950256
12515
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
190971458
190972405
948
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
egger_14_ASD_discovery_cases-caseA184
Unknown
Unknown
PYDC2
egger_14_ASD_discovery_cases-caseA217
Unknown
Unknown
FGF12
egger_14_ASD_discovery_cases-caseA217
Unknown
Unknown
FGF12,FGF12-AS1
gai_11_ASD_discovery_cases-AU0973301
Inherited
LPP (intronic)
gai_11_ASD_discovery_cases-AU1234303
Inherited
UTS2D, CCDC50
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002142
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CLDN16,CLDN1,TMEM207
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004663
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR28,TPRG1-AS1,TPRG1-AS2,LPP-AS1,TPRG1,LPP,TP63
kanduri_15_ASD_discovery_cases-case2991
Maternal
Unknown
Unknown
CCDC50 (intronic)
kousoulidou_13_ASD_discovery_cases-patient12
qPCR
De novo
Unknown
Possibly segregated
MIR28,LPP-AS1,LPP
kushima_18_SCZ_discovery_cases-caseSCZ0915
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
LPP
kushima_18_SCZ_discovery_cases-caseSCZ1326
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
LPP
lesca_12_EP_discovery_cases-case025a
Unknown
Unknown
Unknown
LPP
nava_13_ASD_discovery_cases-Fam711Proband8760
Maternal
Simplex
Unknown
OSTN,OSTN-AS1
nord_11_ASD_discovery_cases-204-1
Maternal
FGF12
pinto_10_ASD_discovery_cases-case5529_3
Agilent1M
maternal
NA
NA
0 genes
prasad_12_ASD_discovery_cases-case122685L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case154265L
Unknown
Unknown
Unknown
LPP
sanders_11_ASD_discovery_cases-11029.p1
Maternal
Simplex (quad-proband matched)
Segregated
TP63
sanders_11_ASD_discovery_cases-11378.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FGF12,FGF12-AS1
sanders_11_ASD_discovery_cases-11413.p1
Both parents
Simplex (quad-proband matched)
Segregated
FGF12
sanders_11_ASD_discovery_cases-11422.p1
Paternal
Simplex (quad-proband matched)
Segregated
P3H2
sanders_11_ASD_discovery_cases-11550.p1
Unknown
Simplex (quad-proband matched)
Not segregated
P3H2
sanders_11_ASD_discovery_cases-11679.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11888.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LPP
sanders_11_ASD_discovery_cases-12113.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LPP
sanders_11_ASD_discovery_cases-12162.p1
Paternal
Simplex (quad-proband matched)
Not segregated
P3H2
sanders_11_ASD_discovery_cases-12229.p1
Unknown
Simplex (quad-proband matched)
Segregated
FGF12,FGF12-AS1
sanders_11_ASD_discovery_cases-12261.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12312.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12610.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12859.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sansovic_17_DD/ID/ASD_discovery_cases-case44
Paternal
RN7SKP222,FGF12
walker_13_ASD_discovery_cases-case8-14175-2820
Unknown
Simplex
Unknown
LINC02013,CCT6P4,GMNC
yingjun_17_ASD_discovery_cases-case9266
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
MIR28,LPP
yin_16_ASD_discovery_cases-case158
Unknown
Unknown
Unknown
LPP
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split384
Unknown
LEPREL1 (intronic)
sanders_11_ASD_discovery_controls-11181.s1
Maternal
Simplex (quad)
NA
FGF12
sanders_11_ASD_discovery_controls-11254.s1
Maternal
Simplex (quad)
NA
FGF12,FGF12-AS1
sanders_11_ASD_discovery_controls-11327.s1
Maternal
Simplex (quad)
NA
FGF12
sanders_11_ASD_discovery_controls-11391.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11396.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11429.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11489.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11550.s1
Unknown
Simplex (quad)
NA
P3H2
sanders_11_ASD_discovery_controls-11567.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11888.s1
Maternal
Simplex (quad)
NA
LPP
sanders_11_ASD_discovery_controls-11939.s1
Paternal
Simplex (quad)
NA
FGF12,FGF12-AS1
sanders_11_ASD_discovery_controls-12162.s1
Paternal
Simplex (quad)
NA
P3H2
sanders_11_ASD_discovery_controls-12424.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12741.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12969.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available