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22q13.31-q13.32CNV Type: Duplication


Largest CNV size: 1852000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A mosaic duplication spanning this region was identified in a 4-year-old female patient with moderate developmental delay (Pham et al., 2014).

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
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
 pham_14_ASD/DD/EP/ID_discovery_cases
 Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.
 10362
 Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)
 N/A
 N/A
 1852000
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 pham_14_ASD/DD/EP/ID_discovery_cases
  N/A
 aCGH
  BCM V8 OLIGO array
 
 
 FISH, chromosome analysis

Controls

No Control Data Available

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  pham_14_ASD/DD/EP/ID_discovery_cases-case49
 4 yrs.
 F
 Developmental delay
 Indication for study: moderate developmental delay.
 
 47321005
 49344598
  2023594
 GRCh38
 Mosaic 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
 pham_14_ASD/DD/EP/ID_discovery_cases-case49
 FISH and/or chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR3201,MIR4535,RPL35P8,LINC01644,LINC00898,FAM19A5,LINC01310
 

Controls

No Control Data Available
No Animal Model Data Available
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