1q24.2-q25.1CNV Type: Deletion
Largest CNV size: 6984374 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
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
5000000
12
0
12
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
6984374
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
5000000
0
0
0
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
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
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
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
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
coe_14_ASD/DD/ID_discovery_cases-case409
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case410
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case411
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case412
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case413
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case414
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case415
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case416
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case417
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case418
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case419
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case420
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
168764138
173764238
5000101
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002133
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
168314822
175299299
6984478
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
coe_14_ASD/DD/ID_discovery_cases-case409
Inherited
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case410
Inherited
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case411
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case412
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case413
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case414
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case415
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case416
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case417
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case418
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case419
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
coe_14_ASD/DD/ID_discovery_cases-case420
Unknown
Unknown
SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,SCYL3,DNM3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002133
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
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,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,RN7SKP160,GAS5-AS1,RNA5SP67,RNA5SP68,RPL30P1,GPR52,BANF1P4,RABGAP1L-IT1,RNU6-307P,CACYBP,SDCCAG3P2,RPS29P4,XCL2,DPT,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,DARS2,GAS5,ZBTB37,SERPINC1,RC3H1-IT1,MRPS14,KIAA0040,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,CENPL,RC3H1,RABGAP1L,NDUFAF4P4,SCYL3,DNM3,TNN
Controls
No Control Data Available
No Animal Model Data Available