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11q23.3-q24.1CNV Type: Duplication


Largest CNV size: 2354622 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo duplication in this region was identified in an ASD case.

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 2354622
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 2354622
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  griswold_12_ASD_discovery_cases-case37341
 NA
 NA
 ASD/autism
 NA
 NA
 119309606
 121664229
  2354624
 GRCh38
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 griswold_12_ASD_discovery_cases-case37341
 qPCR
 
 De novo
 Simplex
 Segregated
 MCAM,MIR6756,RNF26,C1QTNF5,DUXAP5,RNU6-1123P,TMEM136,ELOCP22,HMGB1P42,RPS4XP12,BMPR1AP2,MFRP,USP2,THY1,KRT8P7,TRIM29,OAF,POU2F3,TBCEL,SC5D,CBL,USP2-AS1,NECTIN1,ARHGEF12,TECTA,SORL1,GRIK4
 

Controls

No Control Data Available
No Animal Model Data Available
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