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13q22.2CNV Type: Deletion-Duplication


Largest CNV size: 9970 bp

Statistics Box:
Number of Reports: 4



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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 85156
 1
 0
 1
 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
 9970
 3
 2
 5
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 91090
 1
 0
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 12199
 0
 1
 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.
 
 6153
 3
 1
 4
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 12199
 0
 1
 1

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3
 None
 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
 
 
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 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
 
 
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  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
  gai_11_ASD_discovery_cases-AU1565302
 
 
 Autism
 
 
 74831653
 74916808
  85156
 
 Deletion
 No
  sanders_11_ASD_discovery_cases-11568.p1
 13
 F
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
 75508128
 75510358
  2230
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 75508128
 75510358
  2230
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12201.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
 75508128
 75510358
  2230
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 75007537
 75017507
  9970
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 75007837
 75017507
  9670
 hg18
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU1565302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 74826997
 74918087
  91090
 hg18
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case13774.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13774. SRS score of 90.
 Full-scale IQ (FSIQ) score of 33.
 76111799
 76123998
  12199
 hg19
 Duplication
 No (not tested)

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-11490.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  75369530
  75373251
  3721
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  75508128
  75510358
  2230
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12610.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  75508128
  75510358
  2230
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12701.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  75007837
  75013990
  6153
  hg18
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11033.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  76111799
  76123998
  12199
  hg19
  Duplication
  Yes

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 gai_11_ASD_discovery_cases-AU1565302
 
 
 Inherited
 
 
 TBC1D4
 
 sanders_11_ASD_discovery_cases-11568.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12201.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Paternal
 Simplex (trio)
 NA
 COMMD6
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 COMMD6
 
 girirajan_13a_ASD_discovery_cases-AU1565302
 aCGH (NimbleGen 135K array)
 
 Paternal
 Multiplex
 Unknown
 TBC1D4
 
 krumm_13_ASD_discovery_cases-case13774.p1
 
 
 Maternal
 Simplex
 Segregated
 COMMD6, UCHL3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11490.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12610.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12701.s1
 
 
  Paternal
  Simplex (quad)
  NA
  COMMD6
 
krumm_15_ASD_discovery_controls-control11033.s1
  Illumina 1M
 
  Paternal
 
 
  COMMD6,UCHL3,Exon (1/5),Exon (1/4),Intron (1/2),Exon (1/3),Exon (1/9),Intron (1/8)
 

No Animal Model Data Available
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