HELP     Sign In

3q22.2CNV Type: Duplication


Largest CNV size: 136729 bp

Statistics Box:
Number of Reports: 4



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
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 6450
 0
 1
 1
 cusco_09_ASD_discovery_cases
 74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
 96
 ASD
 
 87.5% Male
 136729
 0
 1
 1
 cusco_09_ASD_replication_cases
 Replication cohort of ASD patients
 215
 ASD
 
 
 136729
 0
 0
 0
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 369491
 1
 0
 1
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 28000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cusco_09_ASD_discovery_controls
 Control individuals matched for population ancestry
 52
 Control
 
 51.9% Male
 136729
 0
 0
 0
 cusco_09_ASD_replication_controls
 Replication control cohort
 120
 Control
 
 
 136729
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 cusco_09_ASD_discovery_cases
  Spanish
 aCGH
  BAC array containing 5442 large insert DNA fragments
 PennCNV
 CNV partition
 MLPA, aCGH, array SNP
 cusco_09_ASD_replication_cases
 
 MLPA
  MLPA panel containing probes targeting CNVs identified in discovery
 
 
 
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  cusco_09_ASD_discovery_controls
  Spanish
  aCGH
  BAC array containing 5442 large insert DNA fragments
 
 
 
  cusco_09_ASD_replication_controls
 
  MLPA
  MLPA panel containing probes targeting CNVs identified in discovery
 
 
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  celestino-soper_11_ASD_discovery_cases-11303
 NA
 M
 ASD
 NA
 NA
 134551868
 134558318
  6451
 GRCh38
 Duplication
 No
  cusco_09_ASD_discovery_cases-AUT195
 NA
 M
 Autism
 Unilateral neurosensorial deafness
 Mild MR
 139934042
 140070771
  136729
 Unknown
 Duplication
 Yes
  girirajan_13b_ASD_discovery_cases-9907107878
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 136121479
 136490970
  369492
 GRCh38
 Deletion
 No
  napoli_17_ASD_discovery_cases-case7
 N/A
 F
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XX
 
 135223814
 135251700
  27887
 GRCh38
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11303
 
 
 Unknown
 Simplex
 NA
 CEP63
 
 cusco_09_ASD_discovery_cases-AUT195
 MLPA & array SNP (Illumina 370)
 
 Paternal
 NA
 NA
 PIK3CB
 
 girirajan_13b_ASD_discovery_cases-9907107878
 
 
 Unknown
 Unknown
 Unknown
 TDGF1P6,RNU6-1284P,PPP2R3A,MSL2,STAG1,PCCB
 
 napoli_17_ASD_discovery_cases-case7
 RT-PCR
 
 Unknown
 
 
 EPHB1
 

Controls

No Control Data Available
No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.