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13q33.3CNV Type: Deletion-Duplication


Largest CNV size: 189871 bp

Statistics Box:
Number of Reports: 1



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

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.
Deletion-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
 189871
 5
 1
 6

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.
 
 18379
 2
 0
 2
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 107844
 0
 1
 1
 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
 51600
 2
 0
 2

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
 
 

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
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  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-11206.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
 107691767
 107701073
  9306
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11370.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
 106731093
 106736548
  5455
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11712.p1
 5
 M
 ASD
 NA
 Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
 108084573
 108094478
  9905
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12099.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
 107691767
 107701073
  9306
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12257.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
 106800250
 106990121
  189871
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13036.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
 107691767
 107701073
  9306
 hg18
 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-11206.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  107691767
  107710146
  18379
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12572.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  106545544
  106547046
  1502
  hg18
  Deletion
  No
  poultney_13_ASD_discovery_controls-control04C28858A
  N/A
  M
  Control
  NIMH Control (NIMH ID 59633)
 
  109672057
  109779900
  107844
  hg19
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900242_900242
  N/A
  N/A
  Control
  No previous psychiatric history
 
  107440306
  107476512
  36206
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB216574_1007873989
  N/A
  N/A
  Control
  No previous psychiatric history
 
  106909000
  106960600
  51600
  hg18
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 sanders_11_ASD_discovery_cases-11206.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11370.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FAM155A intronic
 
 sanders_11_ASD_discovery_cases-11712.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 MYO16 intronic
 
 sanders_11_ASD_discovery_cases-12099.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12257.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FAM155A intronic
 
 sanders_11_ASD_discovery_cases-13036.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 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-11206.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12572.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
poultney_13_ASD_discovery_controls-control04C28858A
 
 
  Unknown
 
 
  MYO16
 
engchuan_15_ASD_discovery_controls-controlHABC_900242_900242
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB216574_1007873989
 
 
  Unknown
 
 
  FAM155A
 

No Animal Model Data Available
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