12q24.21-q24.33CNV Type: Duplication
Largest CNV size: 18218000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
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
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
18199808
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
18218000
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
18148999
0
1
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
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
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
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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-ISCA00002384
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
115131583
133166920
18035338
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-MM0278-003
NA
M
ASD
Sever language delay, severe repetitive behavior, mild dysmorphism, seizures
IQ/LOF 24
115269475
133201064
17931590
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-0278-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: asthma; allergies
115255196
133265309
18010114
GRCh38
Duplication
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-ISCA00002384
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
UBA52P7,RN7SL865P,RNU6-1188P,MIR620,SNRPGP18,MIR4472-2,LINC02457,LINC00173,RNU6-558P,ELOCP32,RPS2P5,LINC02460,RPL17P37,LINC02423,LINC02440,RNA5SP374,RN7SL508P,RN7SKP197,MIR1178,RPL35AP30,MIR4498,RPLP0,RPS20P31,NME2P1,RNU4-2,RNU4-1,RNU6-1088P,RPS27P25,TRIAP1,RPL31P52,SRSF9,NRAV,RPL29P24,POP5,RPL11P5,MIR4700,ARF1P2,CLIC1P1,RPL12P33,OASL2P,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,MAP1LC3B2,C12orf49,HRK,TESC-AS1,RFC5,WSB2,PEBP1,SUDS3,LINC02439,HSPB8,LINC00934,TMEM233,RAB35,PXN-AS1,PXN,SIRT4,MSI1,COX6A1,DYNLL1,COQ5,RNF10,CABP1,MLEC,ACADS,C12orf43,OASL,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,LINC02463,MED13L,RNFT2,FBXW8,TESC,FBXO21,KSR2,VSIG10,TAOK3,SRRM4,PRKAB1,CIT,BICDL1,GCN1,PLA2G1B,GATC,UNC119B,SPPL3,HNF1A-AS1,HNF1A,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,CCDC60,ORAI1,ATP6V0A2,SCARB1,LINC00507,GLT1D1,ADGRD1,EP400P1,NOS1
marshall_08_ASD_discovery_cases-MM0278-003
qPCR, qmPCR
De novo
Simplex
NA
UBA52P7,RN7SL865P,RNU6-1188P,MIR620,SNRPGP18,MIR4472-2,LINC02457,LINC00173,RNU6-558P,ELOCP32,RPS2P5,LINC02460,RPL17P37,LINC02423,LINC02440,RNA5SP374,RN7SL508P,RN7SKP197,MIR1178,RPL35AP30,MIR4498,RPLP0,RPS20P31,NME2P1,RNU4-2,RNU4-1,RNU6-1088P,RPS27P25,TRIAP1,RPL31P52,SRSF9,NRAV,RPL29P24,POP5,RPL11P5,MIR4700,ARF1P2,CLIC1P1,RPL12P33,OASL2P,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,MAP1LC3B2,C12orf49,HRK,TESC-AS1,RFC5,WSB2,PEBP1,SUDS3,LINC02439,HSPB8,LINC00934,TMEM233,RAB35,PXN-AS1,PXN,SIRT4,MSI1,COX6A1,DYNLL1,COQ5,RNF10,CABP1,MLEC,ACADS,C12orf43,OASL,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,LINC02463,MED13L,RNFT2,FBXW8,TESC,FBXO21,KSR2,VSIG10,TAOK3,SRRM4,PRKAB1,CIT,BICDL1,GCN1,PLA2G1B,GATC,UNC119B,SPPL3,HNF1A-AS1,HNF1A,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,CCDC60,ORAI1,ATP6V0A2,SCARB1,LINC00507,GLT1D1,ADGRD1,EP400P1,NOS1
yuen_17_ASD_discovery_cases-case2-0278-003
Affymetrix 6.0
De novo
Simplex
Segregated
UBA52P7,RN7SL865P,RNU6-1188P,MIR620,SNRPGP18,MIR4472-2,LINC02457,LINC00173,RNU6-558P,ELOCP32,RPS2P5,LINC02460,RPL17P37,LINC02423,LINC02440,RNA5SP374,RN7SL508P,RN7SKP197,MIR1178,RPL35AP30,MIR4498,RPLP0,RPS20P31,NME2P1,RNU4-2,RNU4-1,RNU6-1088P,RPS27P25,TRIAP1,RPL31P52,SRSF9,NRAV,RPL29P24,POP5,RPL11P5,MIR4700,ARF1P2,CLIC1P1,RPL12P33,OASL2P,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,RNU6-717P,MAP1LC3B2,C12orf49,HRK,TESC-AS1,RFC5,WSB2,PEBP1,SUDS3,LINC02439,HSPB8,LINC00934,TMEM233,RAB35,PXN-AS1,PXN,SIRT4,MSI1,COX6A1,DYNLL1,COQ5,RNF10,CABP1,MLEC,ACADS,C12orf43,OASL,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,ANHX,LINC02463,MED13L,RNFT2,FBXW8,TESC,FBXO21,KSR2,VSIG10,TAOK3,SRRM4,PRKAB1,CIT,BICDL1,GCN1,PLA2G1B,GATC,UNC119B,SPPL3,HNF1A-AS1,HNF1A,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,CCDC60,ORAI1,ATP6V0A2,SCARB1,LINC00507,GLT1D1,ADGRD1,EP400P1,NOS1
Controls
No Control Data Available
No Animal Model Data Available