19q13.12-q13.13CNV Type: Duplication
Largest CNV size: 164000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A maternally-inherited 164 kb duplication within the 19q13.12-q13.13 locus was identified in a male proband from a cohort of 1015 cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID) (DiGregorio et al., 2017).
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
164000
0
1
1
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_300215
N/A
M
Developmental delay/intellectual disability
37738362
37902990
164629
GRCh38
Duplication
No
Controls
No Control Data Available
No Animal Model Data Available