8q23.3CNV Type: Deletion
Largest CNV size: 275855 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
829394
5
3
8
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
370483
0
1
1
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
1802485
0
1
1
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
9417
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
3597
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
34194
1
3
4
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
275855
12
0
12
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
229000
1
0
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
896359
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
6554
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
277852
5
3
8
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
572373
0
1
1
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
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
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)
71832
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
34194
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.
179149
7
1
8
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
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
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
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)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
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_cases-case13236_2623
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
112025494
112854888
829395
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14022_460
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114614297
114652553
38257
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14190_3140
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114622049
114652553
30505
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14327_4410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
112939036
113343107
404072
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14352_4660
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
115172927
115380404
207478
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16034_1571009001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114619814
114652553
32740
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3441_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113305443
114010480
705038
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6375_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114619814
114652553
32740
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-48204101197
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
112040387
112410870
370484
GRCh38
Duplication
No
guo_17_ASD_discovery_cases-caseM12449
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
111540623
113343107
1802485
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3046
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.
116979531
116988947
9417
Unknown
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case6
9 yrs.
M
Intellectual disability
Intellectual disability
115581953
115585550
3598
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case122348
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
116569943
116585579
15637
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case153120L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
113699208
113713296
14089
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60701L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
113145149
113179342
34194
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60966-L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
117325331
117355364
30034
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
114225205
114501060
275856
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
111122153
111162590
40438
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11232.p1
8.7
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
112347148
112352467
5320
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
114308605
114362431
53827
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
114815954
114856928
40975
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11462.p1
7.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 117; verbal IQ, 121
114136627
114162631
26005
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11511.p1
10.6
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
114248905
114281632
32728
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11598.p1
5.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
114611629
114638180
26552
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11698.p1
8.4
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
113194333
113337085
142753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11722.p1
11.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
114851271
114853887
2617
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13072.p1
15.5
F
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
113892502
113901750
9249
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13324.p1
4.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
114308605
114369328
60724
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-046
NA
M
PDD-NOS
NA
NA
113104074
113333071
228998
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case3322
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.
115225535
116121898
896364
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC11975
N/A
F
Control
Control from SSC cohort
113259329
113265883
6555
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_controls-controlB301469_1007854697
N/A
N/A
Control
No previous psychiatric history
114303542
114358283
54742
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
N/A
N/A
Control
No previous psychiatric history
114622049
114652553
30505
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
N/A
N/A
Control
No previous psychiatric history
111211521
111489373
277853
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB585396_1007852636
N/A
N/A
Control
No previous psychiatric history
111663342
111765130
101789
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB758965_1007853962
N/A
N/A
Control
No previous psychiatric history
115915475
115962077
46603
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB860843_1007875251
N/A
N/A
Control
No previous psychiatric history
116397468
116482009
84542
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
N/A
N/A
Control
No previous psychiatric history
114308605
114362431
53827
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902557_902557
N/A
N/A
Control
No previous psychiatric history
114866501
114941328
74828
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-12907107979
N/A
N/A
Control
Ethnicity: Caucasian
N/A
114194102
114766475
572374
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41778
N/A
M
Control
NIMH Control (NIMH ID 47544)
112234363
112306194
71832
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11069.s1
7.4
F
Control (matched sibling)
NA
NA
116163109
116237128
74020
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
114273579
114452728
179150
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
113273372
113311774
38403
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11462.s1
6.5
M
Control (matched sibling)
NA
NA
114136627
114162631
26005
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11511.s1
9
M
Control (matched sibling)
NA
NA
114248905
114308605
59701
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12864.s1
12.9
F
Control (matched sibling)
NA
NA
114308605
114362431
53827
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13072.s1
8.7
F
Control (matched sibling)
NA
NA
113892502
113901750
9249
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13324.s1
16.3
M
Control (matched sibling)
NA
NA
114300583
114369328
68746
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13236_2623
Unknown
RNU4-37P,RPL30P16,MIR2053,CSMD3
engchuan_15_ASD_discovery_cases-case14022_460
Unknown
engchuan_15_ASD_discovery_cases-case14190_3140
Unknown
engchuan_15_ASD_discovery_cases-case14327_4410
Unknown
CSMD3
engchuan_15_ASD_discovery_cases-case14352_4660
Unknown
engchuan_15_ASD_discovery_cases-case16034_1571009001
Unknown
engchuan_15_ASD_discovery_cases-case3441_3
Unknown
CSMD3
engchuan_15_ASD_discovery_cases-case6375_6
Unknown
girirajan_13b_ASD_discovery_cases-48204101197
Unknown
Unknown
Unknown
RNU4-37P,CSMD3
guo_17_ASD_discovery_cases-caseM12449
qPCR
Maternal
RNU4-37P,RPL30P16,MIR2053,LINC02237,CSMD3
kanduri_15_ASD_discovery_cases-case3046
Paternal
Unknown
Unknown
LINC00536 (non-coding RNA, exonic)
lee_17_ASD/DD/ID/MCA_discovery_cases-case6
Unknown
TRPS1
prasad_12_ASD_discovery_cases-case122348
Unknown
Unknown
Unknown
TRPS1
prasad_12_ASD_discovery_cases-case153120L
Unknown
Unknown
Unknown
CSMD3
prasad_12_ASD_discovery_cases-case60701L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60966-L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11088.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11088.p1
Unknown
Simplex (quad-proband matched)
Segregated
LINC01609
sanders_11_ASD_discovery_cases-11232.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
CSMD3
sanders_11_ASD_discovery_cases-11266.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11390.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11462.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11511.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11598.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11698.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
CSMD3
sanders_11_ASD_discovery_cases-11722.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13072.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13324.p1
Paternal
Simplex (quad-proband matched)
Not segregated
shen_10_ASD_discovery_cases-ASD-09-046
Unknown
NA
NA
CSMD3
yingjun_17_ASD_discovery_cases-case3322
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
RNA5SP276,TRPS1,LINC00536
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC11975
SNP VCF
De novo
CSMD3
engchuan_15_ASD_discovery_controls-controlB301469_1007854697
Unknown
engchuan_15_ASD_discovery_controls-controlB416446_0067942614
Unknown
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
Unknown
EEF1A1P37,SERPINA15P,LINC02237,LINC01609
engchuan_15_ASD_discovery_controls-controlB585396_1007852636
Unknown
LINC02237
engchuan_15_ASD_discovery_controls-controlB758965_1007853962
Unknown
LINC00536
engchuan_15_ASD_discovery_controls-controlB860843_1007875251
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902557_902557
Unknown
girirajan_13b_ASD_discovery_controls-12907107979
Unknown
poultney_13_ASD_discovery_controls-control05C41778
Unknown
CSMD3
sanders_11_ASD_discovery_controls-11069.s1
Paternal
Simplex (quad)
NA
LINC00536
sanders_11_ASD_discovery_controls-11141.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11367.s1
Unknown
Simplex (quad)
NA
CSMD3
sanders_11_ASD_discovery_controls-11462.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11511.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12864.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13072.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13324.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available