4q34.3-q35.2CNV Type: Deletion-Duplication
Largest CNV size: 12599871 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
CNVs within this region were found in four 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
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
12599871
3
1
4
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
12784643
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
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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-ISCA00004211
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
179946068
189548183
9602116
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004294
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
179669472
189975660
10306189
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004351
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
179945868
189975660
10029793
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004406
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
177442769
190042639
12599871
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530480
F
Intellectual disability
Abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249).
179229913
190214555
10984643
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530486
F
Developmental delay
Global developmental delay (HP:0001263), poor speech (HP:0002465), atypical behavior (HP:0000708), abnormal facial shape (HP:0001999), morphological central nervous system abnormality (HP:0002011), orofacial cleft (HP:0000202)
177429913
190214555
12784643
GRCh38
Duplication
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-ISCA00004211
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
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,TEMN3-AS1,DCTD,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,LINC00290,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,TENM3,SORBS2,FAT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004294
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
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,TEMN3-AS1,DCTD,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,FRG1,LINC00290,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,TENM3,SORBS2,FAT1,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004351
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
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,TEMN3-AS1,DCTD,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,FRG1,LINC00290,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,TENM3,SORBS2,FAT1,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004406
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
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,TUBB7P,RNA5SP174,RNA5SP175,FRG2,AGGF1P1,TEMN3-AS1,DCTD,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,FRG1,DUX4L9,RARRES2P4,LINC01098,LINC01099,LINC00290,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,TENM3,SORBS2,FAT1,FRG1-DT
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530480
Unknown
CASP3,SLC25A4,FAT1,DCTD,ACSL1,F11,PDLIM3,SNORD79,DUX4L8,UFSP2,TENM3,CLDN22,CDKN2AIP,TUBB7P,CFAP97,STOX2,LRP2BP,TRAPPC11,CENPU,WWC2,SNX25,TENM3-AS1,ZFP42,ENPP6,WWC2-AS2,TRIML2,PRIMPOL,RWDD4,FRG1,ING2,HSP90AA4P,IRF2,CCDC110,TRIML1,F11-AS1,CYP4V2,ANKRD37,VTI1BP2,MRPS36P2,LINC01060,MYL12BP2,HELT,DUX4L4,CIBAR1P2,C4orf47,FRG2,SLC25A5P6,ICE2P1,ADAM20P3,RARRES2P4,FRG1-DT,DUX4L3,LINC00290,LINC02363,DUX4L6,DUX4L2,DUX4L5,DUX4L7,MIR3945HG,CCNHP1,MTNR1A,KLKB1,CLDN24,AGGF1P1,DUX4,DUX4L9,NDUFB5P1,CLUHP4,MIR1305,DBET,LINC01093,MIR3945,LINC02492,MIR4455,LTO1P1,LINC02500,LINC02436,WWC2-AS1,LINC01262,LINC02362,LINC02515,RPL23AP84,TEMN3-AS1,LINC02514,LINC02374,LINC02365,LINC02427,LINC01596,LINC02434,RPSAP70,LINC02508,RNA5SP174,RN7SKP67,RN7SKP13,TLR3,RNU1-51P,RNU6-335P,RNU6-173P,RNU6-479P,MLLT10P2,RN7SL28P,RNA5SP175,RNU7-192P,RNU6-1053P,RNU4-64P,RNU2-34P,RNU6-1055P,LINC02437,SORBS2,IRF2-DT,DUX4L1,FAM149A
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530486
Unknown
CASP3,AGA,SLC25A4,FAT1,DCTD,ACSL1,F11,PDLIM3,SNORD79,DUX4L8,UFSP2,TENM3,CLDN22,CDKN2AIP,TUBB7P,CFAP97,STOX2,LRP2BP,TRAPPC11,CENPU,WWC2,SNX25,TENM3-AS1,ZFP42,ENPP6,WWC2-AS2,TRIML2,PRIMPOL,RWDD4,FRG1,ING2,HSP90AA4P,IRF2,CCDC110,AGA-DT,TRIML1,LINC01098,F11-AS1,CYP4V2,ANKRD37,VTI1BP2,MRPS36P2,LINC01060,MYL12BP2,HELT,DUX4L4,CIBAR1P2,C4orf47,FRG2,SLC25A5P6,ICE2P1,ADAM20P3,RARRES2P4,FRG1-DT,DUX4L3,LINC00290,LINC02363,DUX4L6,DUX4L2,DUX4L5,DUX4L7,MIR3945HG,CCNHP1,MTNR1A,KLKB1,CLDN24,AGGF1P1,DUX4,DUX4L9,NDUFB5P1,CLUHP4,MIR1305,DBET,LINC01093,MIR3945,LINC02492,MIR4455,RNA5SP173,LTO1P1,LINC02500,LINC01099,LINC02436,WWC2-AS1,LINC01262,LINC02362,LINC02515,RPL23AP84,TEMN3-AS1,LINC02514,LINC02374,LINC02365,LINC02427,LINC01596,LINC02434,RPSAP70,LINC02508,RNA5SP174,RN7SKP67,RNA5SP172,RN7SKP13,TLR3,RNU1-51P,RNU6-335P,RNU6-173P,RNU6-479P,MLLT10P2,RN7SL28P,RNA5SP175,RNU7-192P,RNU6-1053P,RNU4-64P,RNU1-45P,RNU2-34P,RNU6-1055P,LINC02437,SORBS2,IRF2-DT,DUX4L1,FAM149A
Controls
No Control Data Available
No Animal Model Data Available