19q13.12-q13.2CNV Type: Deletion
Largest CNV size: 2150401 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion within this region was identified in a Russian patient with developmental delay (Iourov et al., 2012).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
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
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
2150401
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
iourov_12_ASD/ID/EP_discovery_cases-case2
1 yr.
NA
Developmental delay
Pachygyria, multicystic, encephalomalacia seizures, obesity, short neck, and ear dysmorphism
Developmental delay
41224542
43376696
2152155
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
iourov_12_ASD/ID/EP_discovery_cases-case2
FISH
Unknown
Unknown
Unknown
RN7SL34P,B9D2,EXOSC5,B3GNT8,ERICH4,PLEKHA3P1,LINC01480,CEACAMP3,DNAJC19P2,CEACAM4,DNAJC19P3,CEACAM3,HNRNPA1P52,LYPD4,DMRTC2,MIR6797,RABAC1,MIR4323,MIR8077,CNFN,RNU4-60P,CEACAMP2,RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,CEACAMP4,CD177,CD177P1,AXL,TGFB1,CCDC97,TMEM91,DMAC2,PCAT19,CEACAM5,CEACAM6,RPS19,CD79A,ARHGEF1,ATP1A3,GRIK5,POU2F2,ZNF526,GSK3A,ERF,CIC,PAFAH1B3,PRR19,TMEM145,LIPE,CXCL17,CEACAM1,CEACAM8,CEACAMP1,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,HNRNPUL1,BCKDHA,CEACAM21,CEACAM7,ZNF574,DEDD2,MEGF8,LIPE-AS1,PSG3,PSG9
Controls
No Control Data Available
No Animal Model Data Available