3q25.33CNV Type: Deletion-Duplication
Largest CNV size: 89683 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
77429
1
0
1
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
79025
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
384588
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
16083
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
89683
2
1
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
384588
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% 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.
12247
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
89683
3
0
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
gai_11_ASD_discovery_cases-AU1234303
Autism
160039955
160117383
77429
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case532-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
159844585
159923610
79026
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case13722.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
160961735
161346323
384589
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11223.p1
NA
M
ASD
NA
NA
158766949
158783031
16083
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12652.p1
8.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
159057992
159082747
24756
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
158767144
158785320
18177
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12780.p1
7.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
159110854
159200537
89684
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
krumm_15_ASD_discovery_controls-control13722.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
160961735
161346323
384589
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27935
Control
160423067
160435313
12247
Unknown
Duplication
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
158767144
158785320
18177
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
159110854
159200537
89684
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
159090559
159094675
4117
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gai_11_ASD_discovery_cases-AU1234303
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case532-3
Unknown
Unknown
Unknown
SCHIP1,IL12A-AS1,IQCJ-SCHIP1
krumm_15_ASD_discovery_cases-case13722.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
EEF1GP4,PSMC1P7,PPM1L,B3GALNT1,NMD3,SPTSSB
levy_11_ASD_discovery_cases-11223.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
MFSD1
sanders_11_ASD_discovery_cases-12652.p1
Maternal
Simplex (quad-proband matched)
Segregated
IQCJ,IQCJ-SCHIP1
sanders_11_ASD_discovery_cases-12656.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MFSD1
sanders_11_ASD_discovery_cases-12780.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IQCJ,IQCJ-SCHIP1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control13722.s1
Omni2.5-4v1
Maternal
EEF1GP4,PSMC1P7,PPM1L,B3GALNT1,NMD3,SPTSSB
nord_11_ASD_discovery_controls-04C27935
IQCJ
sanders_11_ASD_discovery_controls-12656.s1
Maternal
Simplex (quad)
NA
MFSD1
sanders_11_ASD_discovery_controls-12780.s1
Maternal
Simplex (quad)
NA
IQCJ,IQCJ-SCHIP1
sanders_11_ASD_discovery_controls-13233.s1
Paternal
Simplex (quad)
NA
IQCJ,IQCJ-SCHIP1
No Animal Model Data Available