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13q14.2-q14.3CNV Type: Deletion


Largest CNV size: 1284109 bp

Statistics Box:
Number of Reports: 1



Summary Information

A deletion of unknown origin in the 13q14.2-q14.3 was identified in a proband with Aicardi-Goutieres Syndrome 1 from a mixed cohort of cases presenting with neurodevelopmental disorders or non-neurodevelopmental disorders (Pfundt et al., 2016).

Additional Locus Information

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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
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 1284109
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl or IlluminaHiSeq2000
 
 CoNIFER
 None

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
  pfundt_16_nonNDD_discovery_cases-case59
 N/A
 N/A
 Non-NDD
 Disease cohort: muscle disorder. Description: Aicardi-Goutieres Syndrome 1
 
 50307092
 51591201
  1284109
 Not reported (likely GRCh37/hg19)
 Deletion
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 pfundt_16_nonNDD_discovery_cases-case59
 
 
 
 
 
 KPNA3 CTAGE10P SPRYD7 DLEU2 MIR3613 TRIM13 KCNRG MIR16-1 MIR15A DLEU1 ST13P4 DLEU7 DLEU7-AS1 RNASEH2B-AS1 RNASEH2B GUCY1B2
 

Controls

No Control Data Available
No Animal Model Data Available
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