7q34-q36.1CNV Type: Deletion
Largest CNV size: 9278935 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion affecting this region, which contains the ASD-associated gene CNTNAP2, was identified in a patient with schizophrenia (Mulle et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
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
mulle_13_SCZ_discovery_cases_1
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
554
Diagnosis of schizophrenia based on meeting DSM-IV citeria
N/A
N/A
9278935
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
mulle_13_SCZ_discovery_controls_1
Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
1014
Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
mulle_13_SCZ_discovery_cases_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
Solid phase hybridization
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
mulle_13_SCZ_discovery_controls_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
mulle_13_SCZ_discovery_cases_1-caseAJ_8348_2
N/A
N/A
Schizophrenia
N/A
N/A
139507625
148793821
9286197
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
mulle_13_SCZ_discovery_cases_1-caseAJ_8348_2
Solid phase hybridization
Unknown
Unknown
Unknown
ERHP1,KDM7A-DT,RNU6-797P,RNU1-58P,PPP1R2P6,RNA5SP247,RNA5SP248,RN7SL771P,NDUFB2-AS1,RNU6-85P,CCT4P1,MRPS33,RNU4-74P,NDUFB10P2,RNU1-82P,TAS2R3,TAS2R4,TAS2R6P,TAS2R5,MTCO1P55,MTND2P5,MTND1P3,MYL6P4,OR9A3P,OR9A1P,OR9N1P,TAS2R38,PRSS58,TRY2P,PRSS3P3,TRBV1,TRBV2,TRBV3-1,TRBV4-1,TRBV5-1,TRBV6-1,TRBV7-1,TRBV4-2,TRBV6-2,TRBV7-2,TRBV8-1,TRBV5-2,TRBV6-4,TRBV7-3,TRBV8-2,TRBV5-3,TRBV9,TRBV10-1,TRBV11-1,TRBV12-1,TRBV10-2,TRBV11-2,TRBV12-2,TRBV6-5,TRBV7-4,TRBV5-4,TRBV6-6,TRBV7-5,TRBV5-5,TRBV6-7,TRBV7-6,TRBV5-6,TRBV6-8,TRBV7-7,TRBV5-7,TRBV7-9,TRBV13,TRBV10-3,TRBV11-3,TRBV12-3,TRBV12-4,TRBV12-5,TRBV14,TRBV15,TRBV16,TRBV17,TRBV18,TRBV19,TRBV20-1,TRBV21-1,TRBV22-1,TRBV23-1,TRBV24-1,MTRNR2L6,TRBV25-1,TRBVA,TRBV26,TRBVB,TRBV27,PGBD4P1,TRBV29-1,PRSS1,PRSS3P1,WBP1LP1,TRBD1,TRBJ1-1,TRBJ1-2,TRBJ1-3,TRBJ1-4,TRBJ1-5,TRBJ1-6,TRBC1,TRBJ2-1,TRBJ2-2,TRBJ2-2P,TRBJ2-3,TRBJ2-4,TRBJ2-5,TRBJ2-6,TRBJ2-7,TRBC2,TRBV30,LLCFC1,OR9A2,OR9P1P,OR6V1,OR6W1P,PIP,TAS2R39,TAS2R40,TMEM139,RN7SL535P,RN7SL481P,HINT1P1,ZYX,MIR6892,TAS2R62P,TAS2R60,TAS2R41,OR2R1P,OR10AC1,PAICSP5,RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,OR2A20P,CTAGE8,OR2A9P,OR2A1,PPIAP83,RNU6ATAC40P,EEF1A1P10,RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,DUTP3,RANP2,MIR548F4,RNU6-1184P,RNA5SP249,RN7SL456P,RN7SL72P,CLEC2L,PARP12,RAB19,MKRN1,ADCK2,NDUFB2,WEE2-AS1,WEE2,SSBP1,PRSS37,OR9A4,CLEC5A,MOXD2P,TRBV28,PRSS2,TRPV6,TRPV5,KEL,CASP2,CLCN1,FAM131B,EPHA1-AS1,CTAGE15,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,NOBOX,C7orf33,HIPK2,TBXAS1,KDM7A,SLC37A3,DENND2A,BRAF,TMEM178B,KIAA1147,MGAM,MGAM2,EPHB6,GSTK1,EPHA1,OR2A1-AS1,CUL1,AGK,TCAF2,TPK1,CNTNAP2
Controls
No Control Data Available
No Animal Model Data Available