5q21.2-q21.3CNV Type: Deletion-Duplication
Largest CNV size: 572056 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.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
1005586
1
1
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
600000
0
2
2
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
572056
0
1
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
550087
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
991095
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
83053
13
0
13
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
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)
550087
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.
78859
11
0
11
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000430
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
104482674
105488260
1005587
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000634
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
104482674
105488260
1005587
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU1441301
N/A
M
ASD
105123299
105695299
572001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1441302
N/A
M
ASD
105123299
105695299
572001
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5002_3
NA
M
ASD
NA
NA
105123252
105695307
572056
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case57224L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
104490831
105040917
550087
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-028
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
104518462
105509556
991095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11128.p1
11.4
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
105096410
105174053
77644
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11239.p1
17.3
F
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 109; verbal IQ, 140
105096410
105179463
83054
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11433.p1
13.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
105091254
105174053
82800
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
105096410
105174053
77644
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
105096410
105179463
83054
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
105091254
105169046
77793
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11724.p1
10.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
105096410
105174053
77644
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
105096410
105169046
72637
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
105096410
105174053
77644
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
105096410
105165433
69024
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
105096410
105165433
69024
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12652.p1
8.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
105096410
105165433
69024
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13166.p1
9.1
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
105096410
105165433
69024
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
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
105096410
105174053
77644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
105096410
105174053
77644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11724.s1
14.5
F
Control (matched sibling)
NA
NA
105096410
105174053
77644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
105091254
105165433
74180
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
105096410
105174053
77644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
105096410
105165433
69024
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
105096410
105165433
69024
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12853.s1
8
M
Control (matched sibling)
NA
NA
105096410
105165433
69024
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13023.s1
8.8
M
Control (matched sibling)
NA
NA
105096410
105175269
78860
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
105096410
105165433
69024
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
105096410
105165433
69024
GRCh38
Deletion
No
wang_10_ASD_discovery_controls-Aut36
29
F
Control
NA
NA
105123252
105644654
521403
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000430
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-334P,RAB9BP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000634
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-334P,RAB9BP1
leppa_16_ASD_discovery_cases-AU1441301
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
leppa_16_ASD_discovery_cases-AU1441302
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
pinto_10_ASD_discovery_cases-case5002_3
Agilent1M
paternal
NA
NA
prasad_12_ASD_discovery_cases-case57224L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-028
Not tested by qPCR
Unknown
Unknown
Unknown
RNU6-334P,RAB9BP1
sanders_11_ASD_discovery_cases-11128.p1
Paternal
Simplex (trio)
NA
RAB9BP1
sanders_11_ASD_discovery_cases-11239.p1
Maternal
Simplex (quad-proband matched)
Segregated
RAB9BP1
sanders_11_ASD_discovery_cases-11433.p1
Paternal
Simplex (quad-proband matched)
Segregated
RAB9BP1
sanders_11_ASD_discovery_cases-11450.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RAB9BP1
sanders_11_ASD_discovery_cases-11473.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RAB9BP1
sanders_11_ASD_discovery_cases-11612.p1
Paternal
Simplex (trio)
NA
RAB9BP1
sanders_11_ASD_discovery_cases-11724.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RAB9BP1
sanders_11_ASD_discovery_cases-12044.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RAB9BP1
sanders_11_ASD_discovery_cases-12083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RAB9BP1
sanders_11_ASD_discovery_cases-12331.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RAB9BP1
sanders_11_ASD_discovery_cases-12435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RAB9BP1
sanders_11_ASD_discovery_cases-12652.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RAB9BP1
sanders_11_ASD_discovery_cases-13166.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RAB9BP1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11473.s1
Paternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-11584.s1
Paternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-11724.s1
Maternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-12044.s1
Paternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-12162.s1
Maternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-12435.s1
Maternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-12652.s1
Maternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-12853.s1
Maternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-13023.s1
Maternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-13041.s1
Maternal
Simplex (quad)
NA
RAB9BP1
sanders_11_ASD_discovery_controls-13166.s1
Maternal
Simplex (quad)
NA
RAB9BP1
wang_10_ASD_discovery_controls-Aut36
Unknown
NA
NA
No Animal Model Data Available