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3q13.32CNV Type: Duplication


Largest CNV size: 88870 bp

Statistics Box:
Number of Reports: 4



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
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
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 70270
 2
 0
 2
 lionel_13_SCZ_discovery_cases
 Schizophrenia patients studied by the International Schizophrenia Consortium (previously described in Nature, 2008).
 3391
 Schizophrenia
 NA
 NA
 87536
 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
 72741
 0
 2
 2
 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
 88870
 0
 5
 5

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
 54854
 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.
 
 88281
 1
 2
 3

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 lionel_13_SCZ_discovery_cases
  NA
 Array SNP
  Affymetrix 6.0
 
 
 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
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  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
  kanduri_15_ASD_discovery_cases-case2953
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 117731061
 117801330
  70270
 Unknown
 Deletion
 No
  kanduri_15_ASD_discovery_cases-case2954
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 117731061
 117801330
  70270
 Unknown
 Deletion
 No
  lionel_13_SCZ_discovery_cases-proband6
 26 yrs.
 M
 Schizophrenia
 Proband recruited into International Schizophrenia Consortium (ISC) study at 26 years of age (previously reported in a Nature 2008 paper). Developmental milestones: normal early milestones. Behavioral/psychiatric evaluation: first onset of psychiatric symptoms started at age of 21 years with behavioral changes; examined by psychiatrist at age of 22 years after reportigng that he heard voices laughing at him and people looking at him; proband believed that he was being poisoned; subsequently treated with long-acting injectable antipsychotic medication for three years prior to recruitment into ISC study; proband remained in chronic condition, with similar delusions, anhedonia (loss of interest in pleasurbale activities), and severe lethargy. Family history: unaffected mother; maternal grandmother reported to have had schizophrenia (DNA not available for testing).
 
 119014263
 119101798
  87536
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1427-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: no. Intellectual disability: no.
 119024001
 119083007
  59007
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-129a1
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes.
 Developmental delay: yes. Intellectual disability: N/A.
 119010267
 119083007
  72741
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11117.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
 119036472
 119098548
  62077
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11161.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
 119015424
 119104294
  88871
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12240.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
 119010267
 119098548
  88282
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12722.p1
 11.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
 119024001
 119098548
  74548
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12997.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 119024001
 119104294
  80294
 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_split1764
  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
 
  118747001
  118801854
  54854
  Unknown
  Duplication
  No
  sanders_11_ASD_discovery_controls-11227.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  119010267
  119098548
  88282
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  119184253
  119187595
  3343
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12997.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  119024001
  119104294
  80294
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 kanduri_15_ASD_discovery_cases-case2953
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, TUSC7(dist=1295174),IGSF11(dist=818149)
 
 kanduri_15_ASD_discovery_cases-case2954
 
 
 Maternal
 Unknown
 Unknown
 Intergenic CNV: nearest genes, TUSC7(dist=1295174),IGSF11(dist=818149)
 
 lionel_13_SCZ_discovery_cases-proband6
 
 
 Unknown
 Simplex
 Unknown
 IGSF11
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1427-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 IGSF11
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-129a1
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 IGSF11
 
 sanders_11_ASD_discovery_cases-11117.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 IGSF11
 
 sanders_11_ASD_discovery_cases-11161.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 IGSF11
 
 sanders_11_ASD_discovery_cases-12240.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 IGSF11
 
 sanders_11_ASD_discovery_cases-12722.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 IGSF11
 
 sanders_11_ASD_discovery_cases-12997.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 IGSF11
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split1764
 
 
  Unknown
 
 
  IGSF11
 
sanders_11_ASD_discovery_controls-11227.s1
 
 
  Paternal
  Simplex (quad)
  NA
  IGSF11
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Unknown
  Simplex (quad)
  NA
  UPK1B
 
sanders_11_ASD_discovery_controls-12997.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IGSF11
 

No Animal Model Data Available
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