13q32.3-q34CNV Type: Deletion-Duplication
Largest CNV size: 15154551 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
Diagnostic yield of patients with undiagnosed intellectual disability
Deletion
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
15154551
1
2
3
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
15281669
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
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
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002682
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
100039860
114327173
14287314
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004008
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
100934782
114327314
13392533
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005433
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
99472316
114293545
14821230
GRCh38
Duplication
Yes
leite_22_DD/ID_discovery_cases-case026
6 yrs.
F
Developmental delay
Global developmental delay, multiple stigmas, multiple congenital anomalies
99060590
114342258
15281669
GRCh38
Deletion
No
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-ISCA00002682
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
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,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,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,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,TMTC4,MYO16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004008
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
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,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,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,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,MYO16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005433
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
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,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,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,CLYBL,ITGBL1,FGF14,ARHGEF7,LINC01070,CUL4A,UPF3A,TMTC4,MYO16
leite_22_DD/ID_discovery_cases-case026
De novo
PARP1P1,ATP4B,COL4A1,GPR183,EFNB2,F10,ERCC5,F7,COL4A2,FGF14,ARGLU1,NAXD,DCUN1D2,ANKRD10,BIVM,TMCO3,RAB20,PCID2,UPF3A,POGLUT2,GRTP1,CARS2,ZIC5,TEX30,GGACT,ABHD13,TMTC4,TEX29,SPACA7,METTL21EP,ADPRHL1,PPIAP24,LINC00343,CLYBL,METTL21C,GPR18,ING1,GAS6,CHAMP1,FGF14-IT1,LINC00567,DAOA-AS1,FGF14-AS2,PRECSIT,LINC00551,DAOA,NALCN,UBAC2,TMEM255B,RPS26P47,ATP11AUN,GAPDHP22,ATP5MC1P5,ARF4P3,CCDC168,LINC00452,RPL21P107,RPL15P18,H2AZP3,LINC00460,MIR623,GAS6-AS1,NALF1,CLCP2,RPS6P23,COL4A2-AS2,LINC00552,LAMP1,LIG4,LIPT1P1,CCR12P,RPL7P45,UBAC2-AS1,MCF2L-AS1,RPL39P29,LDHBP1,MIR1267,KARS1P2,HCFC2P1,HMGB3P7,SOX1-OT,MIR4306,ASNSP3,ANKRD10-IT1,GAS6-DT,MIR4502,BIVM-ERCC5,MIR2681,MIR4705,NDUFA12P1,C13orf46,LINC00554,RNA5SP38,LINC00555,LINC00565,DOCK9-DT,MIR548AR,RNA5SP39,RNY1P2,ARHGEF7-IT1,LINC00411,RASA3-IT1,MYO16-AS1,CLYBL-AS2,MYO16-AS2,LINC00454,RNU1-16P,RN7SKP10,ARHGEF7-AS1,RPL35P9,LINC00404,LINC00443,DCUN1D2-AS,FGF14-AS1,NALF1-IT1,NALCN-AS1,ATP6V1G1P7,HMGB3P4,COL4A2-AS1,RN7SKP9,GRTP1-AS1,CFL1P8,ATP11A-AS1,PCCA-AS1,ARHGEF7-AS2,RNU1-24P,LINC00676,COX5BP6,CLYBL-AS1,LINC00368,GRK1,PCCA,LINC01043,CFAP97D2,LINC00354,LINC01070,MIR8075,MIR8073,LINC00431,LINC01232,LINC00399,LINC01309,LINC01044,LINC00396,LINC01054,LINC01039,F10-AS1,LINC00370,LINC02337,PCCA-DT,LINC00449,SLC10A2,SOX1,TFDP1,TPP2,RN7SL783P,LINC01067,SNORD31B,CDC16,ZIC2,PROZ,CUL4A,ARHGEF7,IRS2,TM9SF2,ITGBL1,TNFSF13B,RASA3,TUBGCP3,DOCK9,MYO16,MCF2L,ATP11A
Controls
No Control Data Available
No Animal Model Data Available