1q23.3-q24.3CNV Type: Deletion
Largest CNV size: 7215380 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion within this region was found in a case 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
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
10100000
1
0
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
7215380
1
0
1
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
qPCR
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_262739
N/A
M
Developmental delay/intellectual disability
162083698
172042040
9958343
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004362
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
164036599
171252077
7215479
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_262739
qPCR
De novo
MIR4654,RNA5SP61,MIR556,SPATA46,SLAMF6P1,UQCRBP2,RN7SL861P,RNA5SP62,RNA5SP63,NMNAT1P2,RNU5F-6P,HMGB3P6,RNU6-171P,RNU6-755P,MIR3658,RNA5SP64,MIR921,RPL4P2,CNN2P10,DUTP6,RNA5SP65,AKR1D1P1,MIR1255B2,GCSHP5,RPL34P1,RNU6-1310P,MIR557,QRSL1P1,XCL1,SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,C1orf226,UAP1,CCDC190,RGS4,LRRC52,MGST3,UCK2,FMO7P,LINC01675,FMO8P,FMO9P,FMO10P,FMO11P,TADA1,ILDR2,LINC01363,CREG1,MPC2,GPR161,TIPRL,SFT2D2,ANKRD36BP1,XCL2,DPT,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,NOS1AP,SH2D1B,DDR2,HSD17B7,RGS5,NUF2,LMX1A,RXRG,TMCO1,FAM78B,POGK,MAEL,GPA33,DUSP27,POU2F1,CD247,RCSD1,ADCY10,DCAF6,TBX19,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,UHMK1,PBX1,ALDH9A1,SCYL3,DNM3,MPZL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004362
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NMNAT1P2,RNU5F-6P,HMGB3P6,RNU6-171P,RNU6-755P,MIR3658,RNA5SP64,MIR921,RPL4P2,CNN2P10,DUTP6,RNA5SP65,AKR1D1P1,MIR1255B2,GCSHP5,RPL34P1,RNU6-1310P,MIR557,QRSL1P1,XCL1,SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,LRRC52,MGST3,UCK2,FMO7P,LINC01675,FMO8P,FMO9P,FMO10P,FMO11P,TADA1,ILDR2,LINC01363,CREG1,MPC2,GPR161,TIPRL,SFT2D2,ANKRD36BP1,XCL2,DPT,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,LMX1A,RXRG,TMCO1,FAM78B,POGK,MAEL,GPA33,DUSP27,POU2F1,CD247,RCSD1,ADCY10,DCAF6,TBX19,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PBX1,ALDH9A1,SCYL3,MPZL1
Controls
No Control Data Available
No Animal Model Data Available