4q31.23-q35.2CNV Type: Duplication
Largest CNV size: 41209244 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication 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...
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
41579708
0
1
1
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
41209244
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
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-case1025
F
Facial dysmorphism, deafness. Karyotype: 46,XX add(4) ~ q35.
148456598
190036305
41579708
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004425
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148356485
189548183
41191699
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
chaves_24_ASD/DD/ID_discovery_cases-case1025
Unknown
ASS1P8,CASP3,AGA,CLCN3,LRBA,ANXA2P1,SLC25A4,ETFDH,FGG,FAT1,DCTD,FGA,CPE,CTSO,ACSL1,F11,FGB,PDLIM3,ARFIP1,SNORD79,FBXO8,AADAT,GASK1B,GALNT7,ASIC5,SPOCK3,TMA16,FBXW7,DCHS2,HPF1,UFSP2,TENM3,MARCHF1,NEIL3,CLDN22,MIR4453HG,TMEM144,DDX60,CDKN2AIP,TUBB7P,CFAP97,STOX2,FNIP2,FSTL5,PDGFC,RXFP1,SH3RF1,LRP2BP,SPCS3,MAP9,HAND2-AS1,TRAPPC11,CENPU,CEP44,TKTL2,WWC2,SNX25,MND1,TENM3-AS1,DDX60L,CBR4,FHDC1,NAF1,SNORD73B,WDR17,ZFP42,FAM192BP,ENPP6,FAM218A,C4orf45,WWC2-AS2,SPATA4,ASB5,SH3D19,TIGD4,TRIML2,PRIMPOL,C4orf46,RBM46,RWDD4,TMEM154,TMEM192,TRIM60,DCLK2,HMGB2,FRG1,HPGD,ING2,FTH1P21,GK3P,HSP90AA4P,GPM6A,HADHAP1,GRIA2,GLRB,GUCY1B1,GUCY1A1,IRF2,CCDC110,AGA-DT,PSME2P3,RNF175,TRIML1,PRSS48,IQCM,LINC01098,LINC02433,GASK1B-AS1,F11-AS1,CYP4V2,ANKRD37,VTI1BP2,MRPS36P2,NACA3P,TRIM61,TSEN2P1,RPS3AP18,LINC01060,MYL12BP2,HELT,RPL5P11,CIBAR1P2,C4orf47,PTGES3P3,HSP90AA6P,NOL8P1,WDR45P1,FRG2,GALNTL6,SLC25A5P6,ICE2P1,AK4P6,ADAM20P3,AIDAP2,YWHAQP4,FRG1-DT,LINC00290,TRIM60P14,LINC02363,MIR578,RPL9P16,ZBTB8OSP1,MIR3945HG,CCNHP1,FHIP1A,RANP6,ATP5MGP4,NPY2R,NPY5R,MTNR1A,KLKB1,NPY1R,NEK1,CHORDC1P3,CLDN24,MTHFD2P4,FABP5P12,RPS14P7,RPL6P12,AKIRIN2P1,RPL35AP12,MTND1P22,DUX4L9,NDUFB5P1,RNY4P17,MIR1305,NSA2P6,MARK2P4,SMIM31,MIR4276,MIR548T,LINC02431,MIR3688-1,BTF3L4P4,APELA,NUDT19P5,MIR3140,LINC02275,LINC02382,LINC01093,MIR3945,LINC02492,ADAM20P2,MIR4455,MIR4453,MIR4454,MIR3688-2,RNA5SP166,MTND4P8,RNA5SP168,RNA5SP167,RNA5SP171,MTND2P33,RNA5SP170,RNA5SP169,MTND5P9,RNA5SP173,MTND3P3,SCGB1D5P,LINC02273,LTO1P1,TOMM22P4,LINC02355,FAM218BP,PPID,GATB,RPS3A,MSMO1,PLRG1,GPM6A-DT,LINC02500,LINC01099,LINC02436,LINC01179,LINC02269,WWC2-AS1,LINC01612,LINC02504,LINC01262,LINC02268,LINC02362,LINC02515,MIR6082,FBXW7-AS1,LINC02509,LINC02174,LINC02477,TEMN3-AS1,FHIP1A-DT,SAP30-DT,APOBEC3AP1,LINC02514,LINC02374,LINC02365,LINC02427,LINC01596,LINC02434,RPSAP70,LINC02508,RNA5SP174,RN7SKP67,RN7SKP136,RN7SL446P,RNA5SP172,RN7SKP13,RN7SL419P,RN7SKP188,RN7SL253P,RN7SKP35,MTATP6P9,RN7SKP105,TLL1,TLR2,TDO2,TLR3,SFRP2,VEGFC,RNU6-853P,RNU6ATAC13P,RNU1-51P,RNU4-87P,RNU6-1196P,RN7SL776P,RNU6-335P,RNU6-173P,RPPH1-3P,RNU6-128P,RNU6-1096P,RNU6-668P,RNU6-479P,RNU6-1336P,MLLT10P2,RNU7-197P,RN7SL28P,RNU7-194P,RNU6-582P,MTND6P17,RNA5SP175,RNU6-284P,RNU7-192P,RNU4-79P,RNU2-66P,MTCO3P9,RNU6-1285P,YWHAEP4,NDUFB2P1,MTCO1P9,RNU6-1282P,RNU6-1053P,RNU2-44P,RNU4-64P,RNU6-1230P,MTCO2P9,RNU1-45P,MTCYBP17,RNU2-34P,RNU6-1055P,LINC02437,NPY2R-AS1,LINC02430,PALLD-AS1,LINC02512,LINC02272,LINC02233,SAP30,SNORD73A,GLRA3,SORBS2,SPCS3-AS1,IRF2-DT,CBR4-DT,MFAP3L,RAPGEF2,LRAT,HAND2,ANXA10,ADAM29,SCRG1,KLHL2,MAB21L2,MORF4,FAM149A,PALLD,TMEM131L,TRIM2,ANP32C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004425
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ASS1P8,RNA5SP166,ATP5MGP4,RNU7-197P,LINC02430,AKIRIN2P1,RNA5SP167,RNU6-1230P,RNU7-194P,MAB21L2,ZBTB8OSP1,RNA5SP168,AK4P6,RPS3A,SNORD73B,SNORD73A,RNU6-1282P,FAM160A1-DT,RN7SKP35,RNA5SP169,LINC02273,RN7SL446P,FBXW7-AS1,MIR3140,MIR4453HG,MIR4453,TIGD4,FAM192BP,RNU6-1196P,ANXA2P1,RN7SL419P,WDR45P1,SFRP2,RNU6-1285P,FGA,FGG,NDUFB2P1,RNU2-66P,RNU2-44P,NPY2R,YWHAEP4,MTCYBP17,MTND6P17,MTND5P9,MTND4P8,MTND3P3,MTCO3P9,MTATP6P9,MTCO2P9,MTCO1P9,MTND2P33,MTND1P22,FTH1P21,LINC02272,RPPH1-3P,RNU6-582P,LINC02433,NUDT19P5,RNU4-79P,C4orf46,RNU6-128P,FABP5P12,MIR3688-1,MIR3688-2,RPS14P7,MTHFD2P4,TOMM22P4,MIR4454,RPL35AP12,TKTL2,RN7SKP105,ANP32C,RNU6-284P,RNU6-668P,TRIM60P14,FAM218BP,NACA3P,FAM218A,TRIM75P,RNU4-87P,GK3P,MIR578,HADHAP1,SCGB1D5P,NOL8P1,RNA5SP170,RNA5SP171,RN7SL776P,PHBP14,RN7SKP188,BTF3L4P4,RNU6-1336P,RPL9P16,RNU6-853P,RNY4P17,RPL6P12,PTGES3P3,APOBEC3AP1,LINC02382,RNU6ATAC13P,MIR6082,RN7SL253P,MIR548T,HMGB2,RPL5P11,RNU6-1096P,HAND2,MORF4,RANP6,MIR4276,TSEN2P1,ADAM20P2,LINC02509,RN7SKP136,RNA5SP172,RNU1-45P,RNA5SP173,NDUFB5P1,LINC02500,RN7SKP13,CCNHP1,MIR1305,RNU2-34P,RN7SKP67,FAM92A1P2,WWC2-AS2,CLDN24,CDKN2AIP,VTI1BP2,ING2,RNU6-479P,RNU6-335P,RNU6-1053P,RN7SL28P,MYL12BP2,SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,PRSS48,GATB,TMEM154,TLR2,PLRG1,FGB,MAP9,GUCY1B1,TDO2,CTSO,FAM198B-AS1,ETFDH,PPID,NAF1,NPY1R,NPY5R,TMA16,TRIM61,MSMO1,LINC01179,CLCN3,LINC02275,AADAT,LINC01612,LINC02512,HSP90AA6P,LINC02504,LINC02174,SAP30,SCRG1,LINC02269,FBXO8,HPGD,MARK2P4,SPATA4,ASB5,SPCS3,AGA,TEMN3-AS1,DCTD,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,NR3C2,LINC02355,IQCM,DCLK2,SH3D19,FAM160A1,FBXW7,ARFIP1,FHDC1,TRIM2,MND1,TMEM131L,RNF175,DCHS2,LRAT,RBM46,GUCY1A1,ASIC5,PDGFC,GLRB,TMEM144,FNIP2,C4orf45,RAPGEF2,LINC02233,LINC02477,SMIM31,APELA,TRIM60,TMEM192,KLHL2,CPE,TLL1,SPOCK3,ANXA10,DDX60,DDX60L,CBR4,SH3RF1,NEK1,HPF1,MFAP3L,LINC02431,GALNT7,HAND2-AS1,LINC02268,CEP44,GLRA3,ADAM29,GPM6A,VEGFC,NEIL3,LINC01098,LINC01099,LINC00290,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,GRIA2,RXFP1,FSTL5,MARCH1,PALLD,GALNTL6,TENM3,SORBS2,FAT1,LRBA,WDR17
Controls
No Control Data Available
No Animal Model Data Available