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13q11CNV Type: Deletion-Duplication


Largest CNV size: 200179 bp

Statistics Box:
Number of Reports: 2



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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
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
 200179
 3
 18
 21
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 ± 4.04 yrs.
 89.3% Male
 23251
 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.
 
 214565
 1
 12
 13
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 ± 10.12 yrs.
 48.0% Male
 23251
 0
 0
 0

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
 
 
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
 Affymetrix Genotyping Console v4.1
 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
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
  Affymetrix Genotyping Console v4.1
  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-11037.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
 18267684
 18290086
  22402
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11048.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
 18229472
 18267705
  38233
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11152.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
 18229472
 18366896
  137424
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11312.p1
 10
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
 18267684
 18366896
  99212
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11355.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
 18229472
 18357541
  128069
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11463.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
 18229472
 18394434
  164962
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11506.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
 18108426
 18139342
  30916
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11644.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
 17968217
 17975177
  6960
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 17920393
 18120572
  200179
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 18096770
 18174347
  77577
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11828.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
 18108426
 18153855
  45429
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 17973380
 18020772
  47392
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12103.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
 18108426
 18267705
  159279
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12243.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
 18108426
 18174347
  65921
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12349.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
 18108426
 18153855
  45429
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12617.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
 18219210
 18246356
  27146
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12961.p1
 4
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
 18215385
 18229472
  14087
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12997.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 18219210
 18354104
  134894
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 18242224
 18290086
  47862
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 18242224
 18300379
  58155
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13195.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
 18229472
 18300379
  70907
 hg18
 Duplication
 No
  yin_16_ASD_discovery_cases-case443
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 19395626
 19418876
  23251
 GRCh37/hg19
 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
  sanders_11_ASD_discovery_controls-11079.s1
  13
  F
  Control (matched sibling)
  NA
  NA
  18229472
  18267705
  38233
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11089.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  18223805
  18357541
  133736
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11366.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  18061834
  18174347
  112513
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11498.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  18152331
  18366896
  214565
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11561.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  18138775
  18299097
  160322
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11644.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  17968217
  17975177
  6960
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11691.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  18219210
  18334782
  115572
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11828.s1
  5
  F
  Control (matched sibling)
  NA
  NA
  18073279
  18174347
  101068
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11942.s1
  14
  M
  Control (matched sibling)
  NA
  NA
  18229472
  18321079
  91607
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12044.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  18242224
  18300379
  58155
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12243.s1
  13
  M
  Control (matched sibling)
  NA
  NA
  18096770
  18174347
  77577
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-13050.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  18084918
  18174347
  89429
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-13195.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  18242224
  18299097
  56873
  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-11037.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11048.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11152.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11312.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11355.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11463.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11506.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11644.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Unknown
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Maternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-11828.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12103.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-12243.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12349.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12617.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12961.p1
 
 
 Paternal
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12997.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-13195.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 yin_16_ASD_discovery_cases-case443
 
 
 Unknown
 Unknown
 Unknown
 ANKRD20A9P
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11079.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11089.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11366.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11498.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11561.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11644.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11691.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11828.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11942.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12044.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12243.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13050.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13195.s1
 
 
  Both parents
  Simplex (quad)
  NA
  0 genes
 

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