12q24.31-q24.33CNV Type: Deletion-Duplication
Largest CNV size: 9861790 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
CNVs 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-Duplication
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
12200000
0
3
3
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
9861790
1
2
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
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_283328
N/A
M
Developmental delay/intellectual disability
121134775
133191400
12056626
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_283660
N/A
M
Developmental delay/intellectual disability
124694290
133242506
8548217
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_306703
N/A
M
Developmental delay/intellectual disability
121134775
133191400
12056626
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001103
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
123444758
133191400
9746643
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004418
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
123365769
133191400
9825632
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004981
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
122985202
130714574
7729373
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_283328
qPCR
Paternal (translocation)
MIR7107,RNU6-1004P,RNU7-170P,IL31,RPL21P1,CLIP1-AS1,HCAR2,HCAR1,ARL6IP4,MIR4304,PITPNM2-AS1,CDK2AP1,RNA5SP375,MIR8072,MIR3908,TMED2,SNORA9B,RPL27P12,MIR6880,RNU6-927P,MIR5188,RPL22P19,NDUFA5P6,LINC02372,HSPE1P20,LINC02376,RNU1-104P,LINC02368,MIR3612,NLRP9P1,TMEM132D-AS1,TMEM132D-AS2,FZD10,RNU6-1077P,ADGRD1-AS1,RPS6P20,LINC02415,RNA5SP376,LINC02414,RNA5SP377,RPS6P21,RNA5SP378,RNU6-1017P,SNORA49,NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,RPL23AP67,P2RX7,P2RX4,RNF34,MORN3,RHOF,LINC01089,SETD1B,HPD,WDR66,MLXIP,LRRC43,B3GNT4,DIABLO,VPS33A,ZCCHC8,RSRC2,HCAR3,DENR,HIP1R,VPS37B,OGFOD2,C12orf65,KMT5A,RILPL2,RILPL1,DDX55,EIF2B1,GTF2H3,TCTN2,CCDC92,DNAH10OS,DHX37,BRI3BP,THRIL,AACS,LINC02359,LINC02347,LINC00943,LINC02375,LINC02411,LINC02393,LINC00508,LINC02441,LINC02369,SLC15A4,LINC02418,LINC02419,PIWIL1,RAN,LINC02370,MMP17,ULK1,PUS1,DDX51,PXMP2,ANKLE2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,ZNF10,ZNF268,CAMKK2,ANAPC5,KDM2B,TMEM120B,PSMD9,BCL7A,CLIP1,KNTC1,CCDC62,ABCB9,PITPNM2,MPHOSPH9,SBNO1,SNRNP35,DNAH10,ZNF664,RFLNA,NCOR2,UBC,TMEM132B,LINC00939,LINC00944,LINC02405,TMEM132C,TMEM132D,RIMBP2,STX2,LINC01257,SFSWAP,EP400,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,ZNF84,ORAI1,ATP6V0A2,SCARB1,LINC00507,GLT1D1,ADGRD1,EP400P1
digregorio_17_DD/ID_discovery_cases-DECIPHER_283660
qPCR
Maternal (translocation)
RNU6-927P,MIR5188,RPL22P19,NDUFA5P6,LINC02372,HSPE1P20,LINC02376,RNU1-104P,LINC02368,MIR3612,NLRP9P1,TMEM132D-AS1,TMEM132D-AS2,FZD10,RNU6-1077P,ADGRD1-AS1,RPS6P20,LINC02415,RNA5SP376,LINC02414,RNA5SP377,RPS6P21,RNA5SP378,RNU6-1017P,SNORA49,NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,RPL23AP67,RNU6-717P,DHX37,BRI3BP,THRIL,AACS,LINC02359,LINC02347,LINC00943,LINC02375,LINC02411,LINC02393,LINC00508,LINC02441,LINC02369,SLC15A4,LINC02418,LINC02419,PIWIL1,RAN,LINC02370,MMP17,ULK1,PUS1,DDX51,PXMP2,ANKLE2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,ZNF10,ZNF268,ANHX,UBC,TMEM132B,LINC00939,LINC00944,LINC02405,TMEM132C,TMEM132D,RIMBP2,STX2,LINC01257,SFSWAP,EP400,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,ZNF84,SCARB1,LINC00507,GLT1D1,ADGRD1,EP400P1
digregorio_17_DD/ID_discovery_cases-DECIPHER_306703
qPCR
Unknown
MIR7107,RNU6-1004P,RNU7-170P,IL31,RPL21P1,CLIP1-AS1,HCAR2,HCAR1,ARL6IP4,MIR4304,PITPNM2-AS1,CDK2AP1,RNA5SP375,MIR8072,MIR3908,TMED2,SNORA9B,RPL27P12,MIR6880,RNU6-927P,MIR5188,RPL22P19,NDUFA5P6,LINC02372,HSPE1P20,LINC02376,RNU1-104P,LINC02368,MIR3612,NLRP9P1,TMEM132D-AS1,TMEM132D-AS2,FZD10,RNU6-1077P,ADGRD1-AS1,RPS6P20,LINC02415,RNA5SP376,LINC02414,RNA5SP377,RPS6P21,RNA5SP378,RNU6-1017P,SNORA49,NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,RPL23AP67,P2RX7,P2RX4,RNF34,MORN3,RHOF,LINC01089,SETD1B,HPD,WDR66,MLXIP,LRRC43,B3GNT4,DIABLO,VPS33A,ZCCHC8,RSRC2,HCAR3,DENR,HIP1R,VPS37B,OGFOD2,C12orf65,KMT5A,RILPL2,RILPL1,DDX55,EIF2B1,GTF2H3,TCTN2,CCDC92,DNAH10OS,DHX37,BRI3BP,THRIL,AACS,LINC02359,LINC02347,LINC00943,LINC02375,LINC02411,LINC02393,LINC00508,LINC02441,LINC02369,SLC15A4,LINC02418,LINC02419,PIWIL1,RAN,LINC02370,MMP17,ULK1,PUS1,DDX51,PXMP2,ANKLE2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,ZNF10,ZNF268,CAMKK2,ANAPC5,KDM2B,TMEM120B,PSMD9,BCL7A,CLIP1,KNTC1,CCDC62,ABCB9,PITPNM2,MPHOSPH9,SBNO1,SNRNP35,DNAH10,ZNF664,RFLNA,NCOR2,UBC,TMEM132B,LINC00939,LINC00944,LINC02405,TMEM132C,TMEM132D,RIMBP2,STX2,LINC01257,SFSWAP,EP400,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,ZNF84,ORAI1,ATP6V0A2,SCARB1,LINC00507,GLT1D1,ADGRD1,EP400P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001103
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3908,TMED2,SNORA9B,RPL27P12,MIR6880,RNU6-927P,MIR5188,RPL22P19,NDUFA5P6,LINC02372,HSPE1P20,LINC02376,RNU1-104P,LINC02368,MIR3612,NLRP9P1,TMEM132D-AS1,TMEM132D-AS2,FZD10,RNU6-1077P,ADGRD1-AS1,RPS6P20,LINC02415,RNA5SP376,LINC02414,RNA5SP377,RPS6P21,RNA5SP378,RNU6-1017P,SNORA49,NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,RPL23AP67,RILPL1,DDX55,EIF2B1,GTF2H3,TCTN2,CCDC92,DNAH10OS,DHX37,BRI3BP,THRIL,AACS,LINC02359,LINC02347,LINC00943,LINC02375,LINC02411,LINC02393,LINC00508,LINC02441,LINC02369,SLC15A4,LINC02418,LINC02419,PIWIL1,RAN,LINC02370,MMP17,ULK1,PUS1,DDX51,PXMP2,ANKLE2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,ZNF10,ZNF268,SNRNP35,DNAH10,ZNF664,RFLNA,NCOR2,UBC,TMEM132B,LINC00939,LINC00944,LINC02405,TMEM132C,TMEM132D,RIMBP2,STX2,LINC01257,SFSWAP,EP400,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,ZNF84,ATP6V0A2,SCARB1,LINC00507,GLT1D1,ADGRD1,EP400P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004418
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3908,TMED2,SNORA9B,RPL27P12,MIR6880,RNU6-927P,MIR5188,RPL22P19,NDUFA5P6,LINC02372,HSPE1P20,LINC02376,RNU1-104P,LINC02368,MIR3612,NLRP9P1,TMEM132D-AS1,TMEM132D-AS2,FZD10,RNU6-1077P,ADGRD1-AS1,RPS6P20,LINC02415,RNA5SP376,LINC02414,RNA5SP377,RPS6P21,RNA5SP378,RNU6-1017P,SNORA49,NOC4L,LINC02361,MIR6763,LRCOL1,P2RX2,PGAM5,RNA5SP379,RPS11P5,RNU6-327P,RNU4ATAC12P,PTP4A1P2,RPL23AP67,KMT5A,RILPL2,RILPL1,DDX55,EIF2B1,GTF2H3,TCTN2,CCDC92,DNAH10OS,DHX37,BRI3BP,THRIL,AACS,LINC02359,LINC02347,LINC00943,LINC02375,LINC02411,LINC02393,LINC00508,LINC02441,LINC02369,SLC15A4,LINC02418,LINC02419,PIWIL1,RAN,LINC02370,MMP17,ULK1,PUS1,DDX51,PXMP2,ANKLE2,ZNF605,NANOGNBP2,ZNF26,ZNF140,ZNF891,ZNF10,ZNF268,SNRNP35,DNAH10,ZNF664,RFLNA,NCOR2,UBC,TMEM132B,LINC00939,LINC00944,LINC02405,TMEM132C,TMEM132D,RIMBP2,STX2,LINC01257,SFSWAP,EP400,GALNT9,FBRSL1,POLE,GOLGA3,CHFR,ZNF84,ATP6V0A2,SCARB1,LINC00507,GLT1D1,ADGRD1,EP400P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004981
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR4304,PITPNM2-AS1,CDK2AP1,RNA5SP375,MIR8072,MIR3908,TMED2,SNORA9B,RPL27P12,MIR6880,RNU6-927P,MIR5188,RPL22P19,NDUFA5P6,LINC02372,HSPE1P20,LINC02376,RNU1-104P,LINC02368,MIR3612,NLRP9P1,TMEM132D-AS1,TMEM132D-AS2,FZD10,C12orf65,KMT5A,RILPL2,RILPL1,DDX55,EIF2B1,GTF2H3,TCTN2,CCDC92,DNAH10OS,DHX37,BRI3BP,THRIL,AACS,LINC02359,LINC02347,LINC00943,LINC02375,LINC02411,LINC02393,LINC00508,LINC02441,LINC02369,SLC15A4,LINC02418,LINC02419,PIWIL1,PITPNM2,MPHOSPH9,SBNO1,SNRNP35,DNAH10,ZNF664,RFLNA,NCOR2,UBC,TMEM132B,LINC00939,LINC00944,LINC02405,TMEM132C,TMEM132D,RIMBP2,ATP6V0A2,SCARB1,LINC00507,GLT1D1
Controls
No Control Data Available
No Animal Model Data Available