12q21.32-q22CNV Type: Deletion
Largest CNV size: 5534842 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion within this region was observed in an ASD proband with a complex karyotype consisting of the insertion of a portion of chromosome 9 into chromosome 5 and interstitial deletion of 12q (Wenger et al., 2016).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
5534842
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
wenger_16_ASD_discovery_cases-case20
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: Complex karyotype, insertion of portion of 9 into 5, interstitial deletion of 12q
87053980
92588822
5534843
GRCh38
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
wenger_16_ASD_discovery_cases-case20
Unknown
RPL23AP68,CYCSP30,MKRN9P,RNA5SP364,RNU1-117P,RNU7-120P,MRPS6P4,DUSP6,CENPCP1,ATP2B1-AS1,RNA5SP365,MRPL2P1,RNU6-148P,BRWD1P2,KERA,LINC02404,RPL21P106,LINC02258,C12orf50,C12orf29,TMTC3,KITLG,LINC02458,POC1B-AS1,LINC02399,LINC02392,CCER1,LINC00615,LUM,DCN,CLLU1OS,CLLU1,LINC02397,RPS4XP15,POC1B,GALNT4,POC1B-GALNT4,ATP2B1,EPYC,LINC01619,BTG1,CEP290,LINC02391
Controls
No Control Data Available
No Animal Model Data Available