3q27.3CNV Type: Deletion-Duplication
Largest CNV size: 34291 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
196000
0
1
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
34291
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
8953
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
88724
0
1
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
1300000
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
18962
3
3
6
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
7946
1
0
1
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)
71098
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)
88724
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.
46234
5
2
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
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)
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_299981
N/A
F
Developmental delay/intellectual disability
186880574
187077025
196452
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5267_3
NA
M
Autism
No language delay, no epilepsy, no dysmorphic features
Average IQ
187869470
187903760
34291
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case03HI2446A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0948302; NDAR ID NDAR_INVVM642XFF)
186668933
186677885
8953
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case67941
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
187889840
187978563
88724
Unknown
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase8
19 yrs.
F
Learning disability (developmental delay/intellectual disability)
Dysmorphism
186511805
187831416
1319612
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
187419176
187423450
4275
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11339.p1
10
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 62; verbal IQ, 93
187869052
187888014
18963
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11657.p1
4.9
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
187869052
187888014
18963
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
186736391
186737885
1495
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
187869052
187888014
18963
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
186741686
186742439
754
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-control13128.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
186669937
186677883
7947
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control05C39363A
N/A
M
Control
NIMH Control (NIMH ID 63182)
186783609
186854706
71098
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11002.s1
10.4
M
Control (matched sibling)
NA
NA
186669510
186703277
33768
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11246.s1
6.7
F
Control (matched sibling)
NA
NA
187419176
187423450
4275
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11339.s1
11.2
M
Control (matched sibling)
NA
NA
187869052
187888014
18963
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
187857492
187888014
30523
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12598.s1
12
F
Control (matched sibling)
NA
NA
186741686
186742439
754
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13128.s1
8.8
M
Control (matched sibling)
NA
NA
186670239
186716473
46235
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13303.s1
17.5
M
Control (matched sibling)
NA
NA
186728298
186734701
6404
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_299981
Maternal
RPS20P14,ST6GAL1
pinto_10_ASD_discovery_cases-case5267_3
Agilent1M
paternal
Simplex
NA
HRG
poultney_13_ASD_discovery_cases-case03HI2446A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HRG
prasad_12_ASD_discovery_cases-case67941
Unknown
Unknown
Unknown
KNG1
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase8
BACs aCGH or FISH
Unknown
Unknown
Unknown
CRYGS,RNU6-1105P,GPS2P2,EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,TBCCD1,DNAJB11,AHSG,HRG,KNG1,PSMD10P2,RFC4,ADIPOQ,MASP1,LINC02041,BCL6,ST6GAL1,RPL39L,FETUB
sanders_11_ASD_discovery_cases-11246.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11339.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11657.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11765.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KNG1
sanders_11_ASD_discovery_cases-12851.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13233.p1
Unknown
Simplex (quad-proband matched)
Not segregated
KNG1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control13128.s1
Illumina 1MDuo
Paternal
HRG
poultney_13_ASD_discovery_controls-control05C39363A
Unknown
EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RFC4,ADIPOQ
sanders_11_ASD_discovery_controls-11002.s1
Paternal
Simplex (quad)
NA
HRG
sanders_11_ASD_discovery_controls-11246.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11339.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11657.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12598.s1
Unknown
Simplex (quad)
NA
KNG1
sanders_11_ASD_discovery_controls-13128.s1
Paternal
Simplex (quad)
NA
HRG
sanders_11_ASD_discovery_controls-13303.s1
Unknown
Simplex (quad)
NA
KNG1
No Animal Model Data Available