5q14.3-q21.1CNV Type: Deletion
Largest CNV size: 15401685 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Deletions within this region were found in three cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
15401685
3
0
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000932
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
87376883
101524443
14147561
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001723
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
91386552
98365880
6979329
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004632
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85966055
101335711
15369657
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000932
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-727P,RNA5SP187,RPS3AP22,MIR9-2,MIR3660,TMEM251P1,RNU4-90P,RAB5CP2,PCBP2P3,LDHBP3,CCT7P2,POLD2P1,MIR2277,NPM1P27,POU5F2,MTND6P3,MTCYBP35,RPL7P18,RNU6-308P,GPR150,HSPD1P11,LINC01554,FABP5P5,MIR583,RNU6-524P,SETP22,RNU1-73P,MTCYBP40,KRT8P32,MRPS35P2,MTCO2P24,MTCO1P24,CTBP2P4,RGMB-AS1,CSNK1A1P3,RNU6-402P,EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22,RNU6-1119P,RN7SKP62,MIR548P,CCNH,LINC02488,LINC02144,LINC02060,MEF2C-AS2,CETN3,MBLAC2,POLR3G,LYSMD3,ARRDC3,ARRDC3-AS1,MTND5P12,ARSK,PCSK1,ERAP1,ERAP2,RIOK2,YTHDF1P1,LINC01846,DDX18P4,RGMB,CHD1,GUSBP8,LINC02113,FAM174A,ST8SIA4,RASA1,TMEM161B,TMEM161B-AS1,LINC00461,MEF2C,LINC02161,ADGRV1,LINC02058,NR2F1-AS1,NR2F1,FAM172A,SLF1,MCTP1,TTC37,RFESD,SPATA9,RHOBTB3,GLRX,ELL2,MIR583HG,CAST,LNPEP,LIX1-AS1,LIX1,LINC02234,LINC02062,MEF2C-AS1,LINC01339,LUCAT1,KIAA0825,FAM81B,LINC01340
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001723
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RAB5CP2,PCBP2P3,LDHBP3,CCT7P2,POLD2P1,MIR2277,NPM1P27,POU5F2,MTND6P3,MTCYBP35,RPL7P18,RNU6-308P,GPR150,HSPD1P11,LINC01554,FABP5P5,MIR583,RNU6-524P,SETP22,RNU1-73P,MTCYBP40,ARRDC3-AS1,MTND5P12,ARSK,PCSK1,ERAP1,ERAP2,RIOK2,YTHDF1P1,LINC01846,LINC02058,NR2F1-AS1,NR2F1,FAM172A,SLF1,MCTP1,TTC37,RFESD,SPATA9,RHOBTB3,GLRX,ELL2,MIR583HG,CAST,LNPEP,LIX1-AS1,LIX1,LINC02234,KIAA0825,FAM81B,LINC01340
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004632
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PTP4A1P4,COX7C,RNU6-804P,LINC02059,RN7SKP34,MIR4280,RN7SL629P,RNU6-606P,RNU6-727P,RNA5SP187,RPS3AP22,MIR9-2,MIR3660,TMEM251P1,RNU4-90P,RAB5CP2,PCBP2P3,LDHBP3,CCT7P2,POLD2P1,MIR2277,NPM1P27,POU5F2,MTND6P3,MTCYBP35,RPL7P18,RNU6-308P,GPR150,HSPD1P11,LINC01554,FABP5P5,MIR583,RNU6-524P,SETP22,RNU1-73P,MTCYBP40,KRT8P32,MRPS35P2,MTCO2P24,MTCO1P24,CTBP2P4,RGMB-AS1,CSNK1A1P3,RNU6-402P,EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22,RNU6-1119P,RN7SKP62,MIR548P,NBPF22P,LINC01949,CCNH,LINC02488,LINC02144,LINC02060,MEF2C-AS2,CETN3,MBLAC2,POLR3G,LYSMD3,ARRDC3,ARRDC3-AS1,MTND5P12,ARSK,PCSK1,ERAP1,ERAP2,RIOK2,YTHDF1P1,LINC01846,DDX18P4,RGMB,CHD1,GUSBP8,LINC02113,FAM174A,ST8SIA4,RASA1,TMEM161B,TMEM161B-AS1,LINC00461,MEF2C,LINC02161,ADGRV1,LINC02058,NR2F1-AS1,NR2F1,FAM172A,SLF1,MCTP1,TTC37,RFESD,SPATA9,RHOBTB3,GLRX,ELL2,MIR583HG,CAST,LNPEP,LIX1-AS1,LIX1,LINC02234,LINC02062,MEF2C-AS1,LINC01339,LUCAT1,KIAA0825,FAM81B,LINC01340
Controls
No Control Data Available
No Animal Model Data Available