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13q32.2CNV Type: Deletion


Largest CNV size: 159071 bp

Statistics Box:
Number of Reports: 2



Summary Information

Deletions within this region were identified in a case with ASD (Prasad et al., 2012) and a case with intellectual disability and speech delay (Iourov et al., 2012).

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 159071
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 16645
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 2516
 4
 0
 4
 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)
 16645
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 81392
 1
 0
 1

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  iourov_12_ASD/ID/EP_discovery_cases-case17
 4 yrs. 11 mos.
 F
 Intellectual disability
 Speech delay, microcephaly, hypertelorism, syndactyly. Karyotype: 1phqh, 1qh+.
 Intellectual disability
 98510084
 98669155
  159071
 GRCh37/hg19
 Deletion
 No
  prasad_12_ASD_discovery_cases-case147230
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 97564004
 97580648
  16645
 
 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-11224.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  97328242
  97330758
  2516
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11254.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  97328242
  97330758
  2516
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11463.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  97328242
  97330758
  2516
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11519.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  97328242
  97330758
  2516
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110040001976_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  97576174
  97657566
  81392
  hg18
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 iourov_12_ASD/ID/EP_discovery_cases-case17
 
 
 Unknown
 Unknown
 Unknown
 IPO5
 
 prasad_12_ASD_discovery_cases-case147230
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11224.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11254.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11463.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11519.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
engchuan_15_ASD_discovery_controls-control110040001976_
 
 
  Unknown
 
 
  FARP1;RNF113B
 

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