13q31.1-q34CNV Type: Deletion-Duplication
Largest CNV size: 34010030 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
CNVs 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-Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
27459046
0
2
2
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
34010030
1
1
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
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
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
chaves_24_ASD/DD/ID_discovery_cases-case651
M
Developmental delay, intellectual disability, and seizures
Developmental delay, seizures, glaucoma. Karyotype: 46,XY, add(5)(p15).
Intellectual disability
86883213
114342258
27459046
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case687
F
Developmental delay, intraventricular communication, axial polidactilia, facial dysmorphism. Karyotype: 46,XX, add(5)(p15).
86883213
114342258
27459046
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004491
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80628584
114327173
33698590
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004502
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
82581008
114327173
31746166
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
chaves_24_ASD/DD/ID_discovery_cases-case651
Unknown
PARP1P1,ATP4B,COL4A1,GPR183,EFNB2,F10,DCT,ERCC5,F7,COL4A2,GPC5,FGF14,OXGR1,ARGLU1,NAXD,DCUN1D2,ANKRD10,BIVM,TMCO3,RAB20,PCID2,UGGT2,UPF3A,POGLUT2,GRTP1,CARS2,ZIC5,TEX30,GGACT,ABHD13,TMTC4,TEX29,SPACA7,METTL21EP,CYCSP35,ADPRHL1,PPIAP24,PEX12P1,PSMA6P4,LINC00343,LINC00410,RNF113B,CLYBL,SP3P,GPR180,METTL21C,GPR18,ING1,GAS6,CHAMP1,FGF14-IT1,LINC00567,DAOA-AS1,FGF14-AS2,PRECSIT,LINC00551,DAOA,HS6ST3,NALCN,UBAC2,TMEM255B,RPS26P47,KRT18P27,ATP11AUN,GAPDHP22,ATP5MC1P5,ARF4P3,PPIAP23,MIR17HG,MIR19A,MIR92A1,MIR18A,TET1P1,MIR17,FABP5P4,MIR19B1,MIR20A,CALM2P4,MIR4500HG,HSP90AB6P,CCDC168,LINC00452,RPL21P107,RPL15P18,H2AZP3,LINC00460,MIR623,GAS6-AS1,MIR622,NALF1,FAR1P1,CLCP2,TULP3P1,BRD7P5,RPS6P23,COL4A2-AS2,NUS1P4,LINC00552,RPL7L1P1,LAMP1,LIG4,IPO5,TRIM60P13,LIPT1P1,CCR12P,RPL21P112,DNAJC3-DT,RPL7P45,UBAC2-AS1,RPL29P29,MCF2L-AS1,RPL39P29,LIN28AP2,LDHBP1,RPL7AP61,MIR1267,KARS1P2,HCFC2P1,HNRNPA1P29,RPL7L1P12,HMGB3P7,AMMECR1LP1,SOX1-OT,MIR4306,ASNSP3,ANKRD10-IT1,FTLP8,MIR3170,GAS6-DT,MIR4502,BIVM-ERCC5,MIR2681,MIR4705,MIR4500,NDUFA12P1,C13orf46,SOX21-AS1,MIR4501,RNA5SP36,LINC00554,RNA5SP38,LINC00555,LINC00565,MTCYBP3,RNA5SP35,LINC00560,DOCK9-DT,MIR548AR,RNA5SP39,RNA5SP34,LINC00557,MIR548AS,RNA5SP37,MTND5P2,RNY1P2,CLDN10-AS1,ARHGEF7-IT1,LINC00411,GPC5-IT1,RASA3-IT1,MYO16-AS1,CLYBL-AS2,MYO16-AS2,RNY4P27,LINC00353,LINC00454,RN7SKP8,RNU1-16P,RN7SKP10,ARHGEF7-AS1,RPL35P9,GPC6-AS2,FARP1-AS1,LINC00379,LINC00404,LINC00443,GPC5-AS2,GPC6-AS1,DCUN1D2-AS,FGF14-AS1,LINC00440,RN7SKP7,STK24-AS1,GRPEL2P1,NALF1-IT1,NALCN-AS1,ATP6V1G1P7,HMGB3P4,COL4A2-AS1,RN7SKP9,DOCK9-AS1,LINC00433,HMGN1P24,GRTP1-AS1,UBBP5,BRK1P2,CFL1P8,ATP11A-AS1,PCCA-AS1,RNU6-83P,GPC5-AS1,RNU6-75P,ARHGEF7-AS2,RNU1-24P,LINC00559,LINC00676,COX5BP6,CLYBL-AS1,LINC00391,LINC00368,LINC01049,RAP2A,GRK1,PCCA,DNAJC3,LINC01043,CFAP97D2,LINC00354,LINC01070,LINC00380,MIR8075,LINC00397,MIR8073,LINC00431,LINC00363,LINC01232,LINC00399,LINC01309,LINC01044,LINC00396,LINC01054,LINC00456,LINC01039,F10-AS1,LINC00370,LINC01040,LINC00373,LINC02337,PCCA-DT,LINC02336,LINC00449,LINC00430,LINC01047,MTND6P18,RNY3P8,RNU6-62P,SLC10A2,SOX1,TFDP1,SLC15A1,TPP2,RN7SL585P,RN7SL783P,RN7SL60P,RN7SL164P,RNU4ATAC3P,MEMO1P5,LINC01067,SNORD31B,CDC16,ZIC2,PROZ,STK24,CUL4A,ARHGEF7,IRS2,MBNL2,CLDN10,TM9SF2,GPC6,ITGBL1,FARP1,SOX21,DZIP1,TNFSF13B,RASA3,ABCC4,TUBGCP3,DOCK9,MYO16,TGDS,SLITRK5,MCF2L,ATP11A
chaves_24_ASD/DD/ID_discovery_cases-case687
Unknown
PARP1P1,ATP4B,COL4A1,GPR183,EFNB2,F10,DCT,ERCC5,F7,COL4A2,GPC5,FGF14,OXGR1,ARGLU1,NAXD,DCUN1D2,ANKRD10,BIVM,TMCO3,RAB20,PCID2,UGGT2,UPF3A,POGLUT2,GRTP1,CARS2,ZIC5,TEX30,GGACT,ABHD13,TMTC4,TEX29,SPACA7,METTL21EP,CYCSP35,ADPRHL1,PPIAP24,PEX12P1,PSMA6P4,LINC00343,LINC00410,RNF113B,CLYBL,SP3P,GPR180,METTL21C,GPR18,ING1,GAS6,CHAMP1,FGF14-IT1,LINC00567,DAOA-AS1,FGF14-AS2,PRECSIT,LINC00551,DAOA,HS6ST3,NALCN,UBAC2,TMEM255B,RPS26P47,KRT18P27,ATP11AUN,GAPDHP22,ATP5MC1P5,ARF4P3,PPIAP23,MIR17HG,MIR19A,MIR92A1,MIR18A,TET1P1,MIR17,FABP5P4,MIR19B1,MIR20A,CALM2P4,MIR4500HG,HSP90AB6P,CCDC168,LINC00452,RPL21P107,RPL15P18,H2AZP3,LINC00460,MIR623,GAS6-AS1,MIR622,NALF1,FAR1P1,CLCP2,TULP3P1,BRD7P5,RPS6P23,COL4A2-AS2,NUS1P4,LINC00552,RPL7L1P1,LAMP1,LIG4,IPO5,TRIM60P13,LIPT1P1,CCR12P,RPL21P112,DNAJC3-DT,RPL7P45,UBAC2-AS1,RPL29P29,MCF2L-AS1,RPL39P29,LIN28AP2,LDHBP1,RPL7AP61,MIR1267,KARS1P2,HCFC2P1,HNRNPA1P29,RPL7L1P12,HMGB3P7,AMMECR1LP1,SOX1-OT,MIR4306,ASNSP3,ANKRD10-IT1,FTLP8,MIR3170,GAS6-DT,MIR4502,BIVM-ERCC5,MIR2681,MIR4705,MIR4500,NDUFA12P1,C13orf46,SOX21-AS1,MIR4501,RNA5SP36,LINC00554,RNA5SP38,LINC00555,LINC00565,MTCYBP3,RNA5SP35,LINC00560,DOCK9-DT,MIR548AR,RNA5SP39,RNA5SP34,LINC00557,MIR548AS,RNA5SP37,MTND5P2,RNY1P2,CLDN10-AS1,ARHGEF7-IT1,LINC00411,GPC5-IT1,RASA3-IT1,MYO16-AS1,CLYBL-AS2,MYO16-AS2,RNY4P27,LINC00353,LINC00454,RN7SKP8,RNU1-16P,RN7SKP10,ARHGEF7-AS1,RPL35P9,GPC6-AS2,FARP1-AS1,LINC00379,LINC00404,LINC00443,GPC5-AS2,GPC6-AS1,DCUN1D2-AS,FGF14-AS1,LINC00440,RN7SKP7,STK24-AS1,GRPEL2P1,NALF1-IT1,NALCN-AS1,ATP6V1G1P7,HMGB3P4,COL4A2-AS1,RN7SKP9,DOCK9-AS1,LINC00433,HMGN1P24,GRTP1-AS1,UBBP5,BRK1P2,CFL1P8,ATP11A-AS1,PCCA-AS1,RNU6-83P,GPC5-AS1,RNU6-75P,ARHGEF7-AS2,RNU1-24P,LINC00559,LINC00676,COX5BP6,CLYBL-AS1,LINC00391,LINC00368,LINC01049,RAP2A,GRK1,PCCA,DNAJC3,LINC01043,CFAP97D2,LINC00354,LINC01070,LINC00380,MIR8075,LINC00397,MIR8073,LINC00431,LINC00363,LINC01232,LINC00399,LINC01309,LINC01044,LINC00396,LINC01054,LINC00456,LINC01039,F10-AS1,LINC00370,LINC01040,LINC00373,LINC02337,PCCA-DT,LINC02336,LINC00449,LINC00430,LINC01047,MTND6P18,RNY3P8,RNU6-62P,SLC10A2,SOX1,TFDP1,SLC15A1,TPP2,RN7SL585P,RN7SL783P,RN7SL60P,RN7SL164P,RNU4ATAC3P,MEMO1P5,LINC01067,SNORD31B,CDC16,ZIC2,PROZ,STK24,CUL4A,ARHGEF7,IRS2,MBNL2,CLDN10,TM9SF2,GPC6,ITGBL1,FARP1,SOX21,DZIP1,TNFSF13B,RASA3,ABCC4,TUBGCP3,DOCK9,MYO16,TGDS,SLITRK5,MCF2L,ATP11A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004491
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PWWP2AP1,ARF4P4,LINC00377,DPPA3P3,LINC00564,RNU6-77P,HIGD1AP2,GYG1P2,RNU6-67P,SLITRK1,VENTXP2,UBE2D3P4,MTND4P1,MTND5P3,LINC00333,MOB1AP1,DDX6P2,TXNL1P1,UBBP5,LIN28AP2,MIR4500,TET1P1,RPL29P29,LINC00433,LINC00560,GRPEL2P1,TRIM60P13,SP3P,LINC00353,LINC02336,PEX12P1,RNA5SP34,FAR1P1,KRT18P27,MIR622,RNU6-75P,BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,RNU4ATAC3P,FABP5P4,MIR548AS,LINC00363,HNRNPA1P29,RNA5SP35,RNA5SP36,RN7SL585P,LINC00391,SOX21,BRD7P5,RPL21P112,LINC00557,RNU6-62P,RNY3P8,RNY4P27,MEMO1P5,MTND5P2,MTND6P18,MTCYBP3,HMGN1P24,RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,RNA5SP37,PSMA6P4,RPL7AP61,FTLP8,RNF113B,RN7SKP8,MIR3170,FARP1-AS1,STK24-AS1,NUS1P4,CYCSP35,CALM2P4,RN7SL60P,DOCK9-AS1,RPL7L1P12,RNU6-83P,DOCK9-DT,RPS6P23,GAPDHP22,UBAC2-AS1,RN7SKP9,H2AFZP3,GPR18,MIR623,HMGB3P4,CCR12P,LINC01232,LINC01039,CFL1P8,MIR4306,CLYBL-AS2,CLYBL-AS1,ZIC5,ZIC2,LINC00554,NDUFA12P1,ASNSP3,RPL15P18,RPS26P47,COX5BP6,ARF4P3,RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,PTMAP5,SLITRK6,LINC00430,LINC00397,LINC01047,LINC00440,LINC01040,RPL7L1P1,LINC00559,LINC01049,LINC00410,LINC00379,GPC5-AS2,GPC5-IT1,GPC5-AS1,GPC6-AS2,GPC6-AS1,DCT,TGDS,SOX21-AS1,CLDN10-AS1,DZIP1,DNAJC3-DT,TULP3P1,LINC00456,RAP2A,IPO5,GPR183,LINC00449,PCCA-AS1,LINC00411,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,LINC00375,LINC00351,MIR4500HG,SLITRK5,GPR180,ABCC4,CLDN10,DNAJC3,UGGT2,OXGR1,MBNL2,FARP1,SLC15A1,DOCK9,UBAC2,TM9SF2,PCCA,GGACT,NALCN-AS1,NALCN,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,GPC6,HS6ST3,STK24,CLYBL,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,GPC5,TMTC4,MYO16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004502
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GYG1P2,RNU6-67P,SLITRK1,VENTXP2,UBE2D3P4,MTND4P1,MTND5P3,LINC00333,MOB1AP1,DDX6P2,TXNL1P1,UBBP5,LIN28AP2,MIR4500,TET1P1,RPL29P29,LINC00433,LINC00560,GRPEL2P1,TRIM60P13,SP3P,LINC00353,LINC02336,PEX12P1,RNA5SP34,FAR1P1,KRT18P27,MIR622,RNU6-75P,BRK1P2,LINC00380,PPIAP23,MIR17HG,MIR17,MIR18A,MIR19A,MIR20A,MIR19B1,MIR92A1,RNU4ATAC3P,FABP5P4,MIR548AS,LINC00363,HNRNPA1P29,RNA5SP35,RNA5SP36,RN7SL585P,LINC00391,SOX21,BRD7P5,RPL21P112,LINC00557,RNU6-62P,RNY3P8,RNY4P27,MEMO1P5,MTND5P2,MTND6P18,MTCYBP3,HMGN1P24,RN7SL164P,MIR4501,AMMECR1LP1,HSP90AB6P,RN7SKP7,RNA5SP37,PSMA6P4,RPL7AP61,FTLP8,RNF113B,RN7SKP8,MIR3170,FARP1-AS1,STK24-AS1,NUS1P4,CYCSP35,CALM2P4,RN7SL60P,DOCK9-AS1,RPL7L1P12,RNU6-83P,DOCK9-DT,RPS6P23,GAPDHP22,UBAC2-AS1,RN7SKP9,H2AFZP3,GPR18,MIR623,HMGB3P4,CCR12P,LINC01232,LINC01039,CFL1P8,MIR4306,CLYBL-AS2,CLYBL-AS1,ZIC5,ZIC2,LINC00554,NDUFA12P1,ASNSP3,RPL15P18,RPS26P47,COX5BP6,ARF4P3,RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,SLITRK6,LINC00430,LINC00397,LINC01047,LINC00440,LINC01040,RPL7L1P1,LINC00559,LINC01049,LINC00410,LINC00379,GPC5-AS2,GPC5-IT1,GPC5-AS1,GPC6-AS2,GPC6-AS1,DCT,TGDS,SOX21-AS1,CLDN10-AS1,DZIP1,DNAJC3-DT,TULP3P1,LINC00456,RAP2A,IPO5,GPR183,LINC00449,PCCA-AS1,LINC00411,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,LINC00375,LINC00351,MIR4500HG,SLITRK5,GPR180,ABCC4,CLDN10,DNAJC3,UGGT2,OXGR1,MBNL2,FARP1,SLC15A1,DOCK9,UBAC2,TM9SF2,PCCA,GGACT,NALCN-AS1,NALCN,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,GPC6,HS6ST3,STK24,CLYBL,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,GPC5,TMTC4,MYO16
Controls
No Control Data Available
No Animal Model Data Available