5q31.1-q31.2CNV Type: Deletion
Largest CNV size: 5035470 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletions within this region were found in two 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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
878000
0
1
1
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
5035470
2
0
2
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_300209
N/A
M
Developmental delay/intellectual disability
136454729
137332999
878271
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001939
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133401565
138437038
5035474
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004395
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
135894042
137619032
1724991
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_300209
Unknown
RNA5SP193,SPOCK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001939
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1289-2,WSPAR,MIR3661,CDKN2AIPNL,RNU6-456P,LINC01843,RN7SL541P,RNU6-1311P,RNU6-1164P,RNU6-757P,MTCYBP18,MTND6P4,MTND5P11,MTND4P12,MTND4LP30,MTND3P25,PITX1,C5orf66-AS1,C5orf66-AS2,NEUROG1,LINC01959,MIR5692C1,IL9,VTRNA2-1,SMIM32,HSPD1P18,RNA5SP193,MIR874,HNRNPA0,RNU6-1148P,RNU6-460P,RNU6-888P,RPS27AP18,VDAC1,TCF7,SKP1,UBE2B,JADE2,SEC24A,DDX46,C5orf24,TXNDC15,DCANP1,TIFAB,CXCL14,LECT2,SMAD5-AS1,TRPC7-AS1,HNRNPA1P13,NPY6R,PKD2L2,WNT8A,NME5,KIF20A,CDC23,GFRA3,CDC25C,FAM53C,FSTL4,C5orf15,CDKL3,SAR1B,CAMLG,PCBD2,CATSPER3,H2AFY,SLC25A48,TGFBI,SMAD5,KLHL3,MYOT,FAM13B,BRD8,C5orf66,TRPC7,TRPC7-AS2,SPOCK1,KDM3B,PPP2CA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004395
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
IL9,VTRNA2-1,SMIM32,HSPD1P18,RNA5SP193,LECT2,SMAD5-AS1,TRPC7-AS1,HNRNPA1P13,TGFBI,SMAD5,KLHL3,TRPC7,TRPC7-AS2,SPOCK1
Controls
No Control Data Available
No Animal Model Data Available