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13q14.12CNV Type: Deletion


Largest CNV size: 189425 bp

Statistics Box:
Number of Reports: 3



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Excess of rare, inherited truncating mutations in autism.
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion

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
 189425
 5
 0
 5
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 187142
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 162906
 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.
 
 201236
 6
 0
 6
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 187142
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 162906
 1
 0
 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
 
 
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

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
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

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-11158.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 44541011
 44556934
  15923
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11998.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111
 44572773
 44762198
  189425
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12424.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
 44541011
 44556934
  15923
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13226.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
 44541011
 44556934
  15923
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13233.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
 44541011
 44556934
  15923
 hg18
 Deletion
 No
  levy_11_ASD_discovery_cases-11998.p1
 NA
 M
 ASD
 NA
 NA
 44572881
 44760022
  187142
 hg18
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11998.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45694790
 45857696
  162906
 hg19
 Deletion
 Yes

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-11158.s1
  11
  M
  Control (matched sibling)
  NA
  NA
  44546869
  44556934
  10065
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11998.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  44572773
  44774009
  201236
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12424.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  44541011
  44556934
  15923
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12972.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  44546869
  44556934
  10065
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13195.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  44541011
  44556934
  15923
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  44541011
  44556934
  15923
  hg18
  Deletion
  No
  levy_11_ASD_discovery_controls-11998.s1
  NA
  M
  Control
  NA
  NA
  44572881
  44760022
  187142
  hg18
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11998.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  45694790
  45857696
  162906
  hg19
  Deletion
  Yes

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11998.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GTF2F2, KCTD4
 
 sanders_11_ASD_discovery_cases-12424.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13226.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 levy_11_ASD_discovery_cases-11998.p1
 
 
 Maternal
 Simplex
 Not segregated
 GTF2F2,KCTD4
 
 krumm_15_ASD_discovery_cases-case11998.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GTF2F2,KCTD4,Intron (1/7),Exon (2/8),Intron (2/7),Intron (3/7),Intron (4/7),Intron (5/7),Intron (6/7),Intron (7/7),Exon (2/2),Intron (1/1),Exon (1/2)
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11998.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GTF2F2, KCTD4
 
sanders_11_ASD_discovery_controls-12424.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12972.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13195.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
levy_11_ASD_discovery_controls-11998.s1
 
 
  Maternal
  Simplex
  NA
  GTF2F2,KCTD4
 
krumm_15_ASD_discovery_controls-control11998.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GTF2F2,KCTD4,Intron (1/7),Exon (2/8),Intron (2/7),Intron (3/7),Intron (4/7),Intron (5/7),Intron (6/7),Intron (7/7),Exon (2/2),Intron (1/1),Exon (1/2)
 

No Animal Model Data Available
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