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13q32.3CNV Type: Deletion


Largest CNV size: 5824 bp

Statistics Box:
Number of Reports: 3



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion

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
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 5824
 5
 0
 5
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 15578118
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 49450
 0
 2
 2

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.
 
 0
 0
 0
 0
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 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
 241026
 0
 1
 1

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH (n=45,744 from Signature Genomic Labs)
  SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
 
 
 FISH
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  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
  sanders_11_ASD_discovery_cases-11367.p1
 7
 M
 Aspergers
 NA
 Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
 99378354
 99379711
  1357
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11897.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
 99115089
 99115495
  406
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12865.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
 99671946
 99676821
  4875
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13035.p1
 4
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 98220247
 98224430
  4183
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13266.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
 99574269
 99580093
  5824
 hg18
 Deletion
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62865
 N/A
 F
 MCA
 Database: Signature. Indication for study: Fetal Hydrops, IUFD
 
 99513618
 115091736
  15578118
 hg19
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case13133_1503
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 99476752
 99526202
  49450
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3200_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 100070492
 100100834
  30342
 hg18
 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
  engchuan_15_ASD_discovery_controls-controlHABC_900975_900975
  N/A
  N/A
  Control
  No previous psychiatric history
 
  98503828
  98744854
  241026
  hg18
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 sanders_11_ASD_discovery_cases-11367.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11897.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 CLYBL intronic
 
 sanders_11_ASD_discovery_cases-12865.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PCCA intronic
 
 sanders_11_ASD_discovery_cases-13035.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13266.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PCCA intronic
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62865
 FISH
 
 Unknown
 Unknown
 Unknown
 DOCK9,UBAC2,GPR18,GPR183,TM9SF2,CLYBL,ZIC5,ZIC2,PCCA,GGACT,TMTC4,NALCN,ITGBL1,FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 engchuan_15_ASD_discovery_cases-case13133_1503
 
 
 Unknown
 
 
 0 genes
 
 engchuan_15_ASD_discovery_cases-case3200_3
 
 
 Unknown
 
 
 TMTC4
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900975_900975
 
 
  Unknown
 
 
  DOCK9;GPR18;GPR183;LOC100289373;UBAC2
 

No Animal Model Data Available
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