2q33.3CNV Type: Deletion-Duplication
Largest CNV size: 89917 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
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
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
128
1
0
1
cusco_09_ASD_discovery_cases
74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
96
ASD
87.5% Male
89917
0
1
1
cusco_09_ASD_replication_cases
Replication cohort of ASD patients
215
ASD
89917
0
0
0
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
367621
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
687094
0
1
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
232569
2
0
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
232570
2
0
2
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
18000
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
20213
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
17040
1
0
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
21371
10
0
10
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cusco_09_ASD_discovery_controls
Control individuals matched for population ancestry
52
Control
51.9% Male
89917
0
0
0
cusco_09_ASD_replication_controls
Replication control cohort
120
Control
89917
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
149050
1
1
2
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.
675565
0
2
2
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
4997
5
0
5
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
279143
1
0
1
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
20608
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
20609
1
0
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)
17040
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.
12108
3
0
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
cusco_09_ASD_discovery_cases
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
PennCNV
CNV partition
MLPA, aCGH, array SNP
cusco_09_ASD_replication_cases
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
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
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cusco_09_ASD_discovery_controls
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
cusco_09_ASD_replication_controls
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
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
None
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
celestino-soper_11_ASD_discovery_cases-11411
NA
M
ASD
NA
NA
208346060
208346188
129
GRCh38
Deletion
No
cusco_09_ASD_discovery_cases-AUT42
NA
M
Autism
Aggression, occasional self-injurious behavior
Severe MR
208759831
208849748
89917
Unknown
Duplication
Yes
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259825
N/A
F
Developmental delay
Cataract; Global developmental delay
207598077
207965698
367622
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001865
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
206391900
207078994
687095
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0119
39 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
205264941
205497509
232569
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1820
51 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
205102232
205198713
96482
GRCh38
Deletion
N/A
kushima_22_SCZ_discovery_cases-caseSCZ0119
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
205264940
205497509
232570
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1820
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
205102231
205198713
96483
GRCh38
Deletion
Yes
monteiro_19_ASD_discovery_cases_case25
N/A
M
ASD and epilepsy
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Epilepsy/seizures: epilepsy. Dysmorphic features: none reported.
Normal (no intellectual disability)
206774280
206792408
18129
GRCh38
Deletion
No
o'roak_12_ASD_discovery_cases-case11023.p1
NA
M
ASD/Autism
No additional clinical info available.
High IQ. Non verbal IQ, 110
208169991
208190204
20214
GRCh38
Deletion
Yes
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
206981897
206998936
17040
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11023.p1
10.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 110; verbal IQ, 110
208169991
208190204
20214
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
208113953
208122115
8163
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
208168833
208190204
21372
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
208343391
208357854
14464
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11831.p1
10.5
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 110
205251064
205256060
4997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12173.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
207823161
207823924
764
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12331.p1
12.3
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
205251064
205260589
9526
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
208370648
208380627
9980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
208168833
208190204
21372
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13187.p1
9.5
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 83; verbal IQ, 86
205251064
205256060
4997
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB607157_1007874877
N/A
N/A
Control
No previous psychiatric history
205210515
205240534
30020
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900061_900061
N/A
N/A
Control
No previous psychiatric history
205461868
205610918
149051
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_105
NA
NA
Control
NA
NA
206392539
207068104
675566
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_262
NA
NA
Control
NA
NA
205148388
205517976
369589
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1676
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
208355809
208357838
2030
Unknown
Homozygous deletion
No
kanduri_15_ASD_discovery_controls-control_split279
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
208355809
208357838
2030
Unknown
Homozygous deletion
No
kanduri_15_ASD_discovery_controls-control_split279
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
206115788
206120784
4997
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12175.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
204686180
204965323
279144
GRCh38
Deletion
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0589
24 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
205037212
205057819
20608
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0589
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
205037211
205057819
20609
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11045.s1
5.1
M
Control (matched sibling)
NA
NA
208113953
208122115
8163
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
208370648
208380627
9980
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11818.s1
14.3
F
Control (matched sibling)
NA
NA
208345103
208357211
12109
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11411
Unknown
Simplex
NA
PIKFYVE
cusco_09_ASD_discovery_cases-AUT42
MLPA & array SNP (Illumina 370)
Unknown
NA
NA
CRYGB, CRYGA, C2orf80, IDH1, PIP5K3
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259825
Paternal
Paternal
Multi-generational
Possibly segregated
RPS29P9,LINC01857,RNU6-664P,PPP1R14BP2,MIR4775,CREB1,FZD5,CCNYL1,PLEKHM3,METTL21A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001865
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
HNRNPA1P51,FAM237A,MIR3130-1,MIR3130-2,MDH1B,FASTKD2,DYTN,CPO,KLF7,ADAM23
kushima_18_SCZ_discovery_cases-caseSCZ0119
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
PARD3B
kushima_18_SCZ_discovery_cases-caseSCZ1820
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
PARD3B
kushima_22_SCZ_discovery_cases-caseSCZ0119
qRT-PCR
Unknown
PARD3B
kushima_22_SCZ_discovery_cases-caseSCZ1820
qRT-PCR
Unknown
PARD3B
monteiro_19_ASD_discovery_cases_case25
Paternal
MIR3130-1,MIR3130-2,FASTKD2
o'roak_12_ASD_discovery_cases-case11023.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
C2orf80
prasad_12_ASD_discovery_cases-case60966-L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11023.p1
Maternal
Simplex (quad-proband matched)
Segregated
C2orf80
sanders_11_ASD_discovery_cases-11045.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CRYGD
sanders_11_ASD_discovery_cases-11506.p1
Maternal
Simplex (trio)
NA
C2orf80
sanders_11_ASD_discovery_cases-11818.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PIKFYVE
sanders_11_ASD_discovery_cases-11831.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PARD3B
sanders_11_ASD_discovery_cases-12173.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PLEKHM3
sanders_11_ASD_discovery_cases-12331.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PARD3B
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTH2R
sanders_11_ASD_discovery_cases-12805.p1
Maternal
Simplex (trio)
NA
C2orf80
sanders_11_ASD_discovery_cases-13187.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PARD3B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB607157_1007874877
Unknown
PARD3B
engchuan_15_ASD_discovery_controls-controlHABC_900061_900061
Unknown
PARD3B
girirajan_11_ASD_discovery_controls-NIMH_105
Unknown
HNRNPA1P51,FAM237A,MIR3130-1,MIR3130-2,MDH1B,FASTKD2,DYTN,CPO,ADAM23
girirajan_11_ASD_discovery_controls-NIMH_262
Unknown
PARD3B
kanduri_15_ASD_discovery_controls-control_split1676
Unknown
Intergenic CNV: nearest genes, KLF7(dist=323839),CREB1(dist=36778)
kanduri_15_ASD_discovery_controls-control_split279
Unknown
Intergenic CNV: nearest genes, KLF7(dist=323839),CREB1(dist=36778)
kanduri_15_ASD_discovery_controls-control_split279
Unknown
PARD3B (intronic)
krumm_15_ASD_discovery_controls-control12175.s1
Illumina 1MDuo
Maternal
PARD3B
kushima_18_ASD/SCZ_discovery_controls-controlCON0589
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
PARD3B
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0589
qRT-PCR
Unknown
PARD3B
sanders_11_ASD_discovery_controls-11045.s1
Maternal
Simplex (quad)
NA
CRYGD
sanders_11_ASD_discovery_controls-11475.s1
Paternal
Simplex (quad)
NA
PTH2R
sanders_11_ASD_discovery_controls-11818.s1
Unknown
Simplex (quad)
NA
PIKFYVE
No Animal Model Data Available