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19q13.33-q13.41CNV Type: Deletion-Duplication


Largest CNV size: 96644 bp

Statistics Box:
Number of Reports: 3



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

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
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
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 218244
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 80882
 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
 96644
 1
 1
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 81123
 2
 0
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 179545
 2
 0
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

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_replication_cases-AU041105
 
 
 Autism
 
 
 57516844
 57735087
  218244
 Unknown
 Deletion
 No
  levy_11_ASD_discovery_cases-11121.p1
 NA
 M
 ASD
 NA
 NA
 52331977
 52412858
  80882
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11121.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
 52331957
 52413945
  81989
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12539.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 52370365
 52467009
  96645
 GRCh38
 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
  levy_11_ASD_discovery_controls-11121.s1
  NA
  F
  Control
  NA
  NA
  52331977
  52412858
  80882
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11455.s1
  NA
  F
  Control
  NA
  NA
  52396360
  52477482
  81123
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11121.s1
  16.2
  F
  Control (matched sibling)
  NA
  NA
  52331957
  52414098
  82142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11455.s1
  8.9
  F
  Control (matched sibling)
  NA
  NA
  52396303
  52575848
  179546
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 gai_11_ASD_replication_cases-AU041105
 
 
 Inherited
 
 
 ZNF480, ZNF610, LOC400713, ZNF528, ZNF534, ZNF578, ZNF808
 
 levy_11_ASD_discovery_cases-11121.p1
 
 
 Maternal
 Simplex
 Not segregated
 ZNF610,ZNF880,ZNF528-AS1,ZNF528
 
 sanders_11_ASD_discovery_cases-11121.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ZNF610,ZNF880,ZNF528-AS1,ZNF528
 
 sanders_11_ASD_discovery_cases-12539.p1
 
 
 Maternal
 Simplex (trio)
 NA
 DPPA5P1,ZNF880,ZNF528-AS1,ZNF528,ZNF534,ZNF578
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
levy_11_ASD_discovery_controls-11121.s1
 
 
  Maternal
  Simplex
  NA
  ZNF610,ZNF880,ZNF528-AS1,ZNF528
 
levy_11_ASD_discovery_controls-11455.s1
 
 
  Maternal
  Simplex
  NA
  DPPA5P1,ZNF528-AS1,ZNF528,ZNF534,ZNF578
 
sanders_11_ASD_discovery_controls-11121.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ZNF610,ZNF880,ZNF528-AS1,ZNF528
 
sanders_11_ASD_discovery_controls-11455.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DPPA5P1,RPL39P34,ZNF528-AS1,ZNF528,ZNF534,ZNF578,ZNF808,ZNF701
 

No Animal Model Data Available
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