6q23.1-q23.2CNV Type: Deletion
Largest CNV size: 119000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A mosaic deletion spanning this region was identified in a 1-year-old male patient referred for study for autistic spectrum (Pham et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
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
119000
1
0
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
pham_14_ASD/DD/EP/ID_discovery_cases-case51
1 yr.
M
ASD
Indication for study: autistic spectrum. Level of mosaicism: 46% by CMA; 46% by FISH
130869961
130988526
118566
GRCh38
Mosaic deletion
Yes
Controls
No Control Data Available
No Animal Model Data Available