12q11-q12CNV Type: Duplication
Largest CNV size: 444408 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
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.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
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
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
464552
1
0
1
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
900000
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
444408
0
4
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
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
274866
0
4
4
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
900000
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.
447478
2
1
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
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
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
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
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
girirajan_13b_ASD_discovery_cases-28309111551
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
37581441
38045993
464553
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU2137305
N/A
F
ASD
37476198
38393198
917001
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11075.p1
6.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
37650242
38045970
395729
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11179.p1
13.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
37601562
38045970
444409
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
37590729
37864335
273607
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12051.p1
6.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
37621503
37864335
242833
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_split1039
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
38072773
38347638
274866
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split140
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
38072773
38347638
274866
Unknown
Triplication
No
kanduri_15_ASD_discovery_controls-control_split811
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
38072773
38347638
274866
Unknown
Duplication
No
leppa_16_ASD_discovery_controls-AU2137303
N/A
M
Control
Unaffected sibling
37476198
38393198
917001
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
37464097
37851950
387854
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
37621503
38038207
416705
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11963.s1
6.1
F
Control (matched sibling)
NA
NA
37590729
38038207
447479
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_cases-28309111551
Unknown
Unknown
Unknown
leppa_16_ASD_discovery_cases-AU2137305
Maternal
Multiplex
Not segregated (CNV not present in affected siblings but is present in unaffected sibling AU2137303)
ZNF970P,AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,ALG10B
sanders_11_ASD_discovery_cases-11075.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11179.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12020.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12051.p1
Maternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split1039
Unknown
Intergenic CNV: nearest genes, ALG10B(dist=362919)
kanduri_15_ASD_discovery_controls-control_split140
Unknown
Intergenic CNV: nearest genes,ALG10B(dist=362919)
kanduri_15_ASD_discovery_controls-control_split811
Unknown
Intergenic CNV: nearest genes, ALG10B(dist=362919)
leppa_16_ASD_discovery_controls-AU2137303
Maternal
Multiplex
ZNF970P,AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,ALG10B
sanders_11_ASD_discovery_controls-11543.s1
Maternal
Simplex (quad)
NA
ZNF970P
sanders_11_ASD_discovery_controls-11715.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11963.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available