3q13.33CNV Type: Deletion-Duplication
Largest CNV size: 105587 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
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-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
30344
1
0
1
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
44284
0
3
3
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
44284
0
0
0
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
84439
0
3
3
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
29147
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
105587
2
1
3
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
25954
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
34534
1
0
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
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)
29147
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.
1248
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
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
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
gazzellone_14_ASD_discovery_cases-case681-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
120896075
120926419
30345
GRCh38
Deletion
No
glessner_09_ASD_discovery_cases-200606089_3608
NA
ASD
NA
NA
121624653
121668937
44285
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU38503
NA
ASD
NA
NA
121624653
121668937
44285
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU56903
NA
ASD
NA
NA
121624653
121668937
44285
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12951.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
121407242
121419097
11856
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12951.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
121584916
121669355
84440
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13764.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
119726170
119733506
7337
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case55310
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
120589481
120618627
29147
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-12187.p1
7.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
119634338
119635586
1249
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12481.p1
5.6
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
119634338
119635046
709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12951.p1
15.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 64; verbal IQ, 44
121566184
121671771
105588
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family31_Twin_2
N/A
N/A
ASD/NDD
Case is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
121692494
121718447
25954
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_split625
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
121563355
121597888
34534
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11700.s1
11
F
Control (matched sibling)
NA
NA
119634338
119635586
1249
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12481.s1
9
M
Control (matched sibling)
NA
NA
119634338
119635046
709
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gazzellone_14_ASD_discovery_cases-case681-3
Unknown
Unknown
Unknown
STXBP5L
glessner_09_ASD_discovery_cases-200606089_3608
Unknown
Unknown
NA
RN7SL172P,RNU4-62P,FBXO40,GOLGB1,HCLS1
glessner_09_ASD_discovery_cases-AU38503
Unknown
Unknown
NA
RN7SL172P,RNU4-62P,FBXO40,GOLGB1,HCLS1
glessner_09_ASD_discovery_cases-AU56903
qPCR
Unknown
Unknown
NA
RN7SL172P,RNU4-62P,FBXO40,GOLGB1,HCLS1
krumm_15_ASD_discovery_cases-case12951.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
STXBP5L
krumm_15_ASD_discovery_cases-case12951.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RN7SL172P,RNU4-62P,ARGFX,FBXO40,GOLGB1,HCLS1
krumm_15_ASD_discovery_cases-case13764.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MAATS1
prasad_12_ASD_discovery_cases-case55310
qPCR
Paternal
Simplex
Unknown
ARHGAP31
sanders_11_ASD_discovery_cases-12187.p1
Paternal
Simplex (quad-proband matched)
Segregated
RPL10P7
sanders_11_ASD_discovery_cases-12481.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12951.p1
Maternal
Simplex (quad-proband matched)
Segregated
RN7SL172P,RNU4-62P,ARGFX,FBXO40,GOLGB1,HCLS1
stamouli_18_ASD/NDD_discovery_cases-family31_Twin_2
Unknown
Simplex
Segregated (CNV not present in unaffected twin)
GOLGB1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split625
Unknown
EAF2
sanders_11_ASD_discovery_controls-11700.s1
Maternal
Simplex (quad)
NA
RPL10P7
sanders_11_ASD_discovery_controls-12481.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available