4q32.2-q35.2CNV Type: Duplication
Largest CNV size: 27979846 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
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
Title
Author, Year
Report Class
CNV Type
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
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
27979846
0
1
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
28477000
0
1
1
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
25643912
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
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-ISCA00000337
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
162013220
189975519
27962300
GRCh38
Duplication
Yes
sansovic_17_DD/ID/ASD_discovery_cases-case42
3 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
161498388
189975519
28477132
GRCh38
Duplication
No
wenger_16_ASD_discovery_cases-case15
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: Cri du chat syndrome
162786205
188430114
25643910
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-ISCA00000337
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
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,RNU1-51P,LINC01596,MLLT10P2,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,FRG1,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,LINC01262,FSTL5,MARCH1,PALLD,GALNTL6,TENM3,SORBS2,FAT1,FRG1-DT,WDR17
sansovic_17_DD/ID/ASD_discovery_cases-case42
Maternal
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,RNU1-51P,LINC01596,MLLT10P2,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,FRG1,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,LINC01262,FSTL5,MARCH1,PALLD,GALNTL6,TENM3,SORBS2,FAT1,FRG1-DT,WDR17
wenger_16_ASD_discovery_cases-case15
Unknown
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,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,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,MARCH1,PALLD,GALNTL6,TENM3,SORBS2,FAT1,WDR17
Controls
No Control Data Available
No Animal Model Data Available