15q21.3-q22.31CNV Type: Deletion
Largest CNV size: 8300000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
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 clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
8300000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
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
tzetis_12_DD/ID_discovery_cases-case34
F
DD/ID
Broad base to nose, broad thumbs/toes, clinodactyly, hypotonia, syndactyly23 toes, enamel abnormalities
56039188
64353188
8314001
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
tzetis_12_DD/ID_discovery_cases-case34
Unknown
Unknown
CD24P2,RNU6-1287P,HMGB1P33,HNRNPA3P11,LINC00926,LINC01413,NDUFB10P1,RNU6-844P,MTCO3P23,MTND3P12,MTND5P32,MTCYBP23,HMGB1P51,HSP90AB4P,ZNF444P1,MIR2116,LDHAL6B,RNU4-80P,RNU6-212P,RNA5SP396,PIGHP1,MESTP2,CYCSP38,RNA5SP397,LINC02349,C2CD4A,NPM1P47,C2CD4B,MIR8067,MIR6085,HMGN1P26,MGC15885,MIR190A,TPM1-AS,FBXL22,MIR422A,SNX22,MNS1,ZNF280D,POLR2M,AQP9,RN7SKP95,SLTM,GTF2A2,BNIP2,NMNAT1P5,ANXA2,LACTB,RPS27L,RAB8B,CA12,LINC02568,CIAO2A,PPIB,RFX7,TEX9,TCF12,CGNL1,ALDH1A2,LIPC,LIPC-AS1,MINDY2,RNF111,CCNB2,MYO1E,FAM81A,GCNT3,FOXB1,ICE2,RORA-AS1,RORA-AS2,GOLGA2P11,TLN2,TPM1,APH1B,USP3,USP3-AS1,HERC1,SNX1,CSNK1G1,GCOM1,MYZAP,RPS3AP6,RORA,VPS13C,DAPK2,ADAM10
Controls
No Control Data Available
No Animal Model Data Available