7q33-q36.3CNV Type: Duplication
Largest CNV size: 23147703 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
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
21133114
1
0
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
23147703
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
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
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
akkus_24_ASD/DD/ID_discovery_cases-case9B
2 yrs.
M
Developmental delay
Developmental delay, hypotonia.
138193904
159327017
21133114
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002630
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136309982
159307523
22997542
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
akkus_24_ASD/DD/ID_discovery_cases-case9B
De novo
AOC1,BRAF,CLCN1,ALDH7A1P3,CDK5,CASP2,EPHB6,EN2,EPHA1,EZH2,DPP6,TRBV6-7,TRBD1,TRBV5-4,TRBV12-4,TRBV7-2,TRBJ2-7,TRBJ2-4,TRBV25-1,TRBJ1-1,TRBJ1-6,TRBV12-5,TRBJ2-3,TRBV20-1,TRBV7-5,TRBJ2-2P,TRBV7-6,TRBV12-1,TRBV6-4,TRBV17,TRBV7-4,TRBV5-3,TRBV12-2,TRBV6-1,TRBV19,TRBV7-9,OR9A1P,TRBV10-2,TRBV24-1,TRBV1,DENND2A,TRBV28,TPK1,TRBV5-1,TRBV18,TRBV11-1,TRBJ1-4,TRBV11-3,TRBV23-1,TRBV6-8,TRBV7-1,TRBJ2-2,TRBV6-2,TRBV27,TRBV5-7,TRBV4-1,TRBV7-3,TRBV22-1,TRBV16,TRBV4-2,TRBVB,TRBC1,TRBV30,TRBJ1-2,TRBV21-1,TRBJ2-1,TRBV26,TRBV11-2,TRBV10-1,TRBJ1-5,TRBV14,TRBV6-5,TRBV13,TRBV6-6,TRBJ2-5,TRBV12-3,TRBJ1-3,TRBV7-7,TRBJ2-6,TRBV3-1,TRBV15,TRBV5-5,TRBV10-3,TRBC2,TRBV2,TRBV5-6,TRBV9,TRBV8-2,TRBV8-1,TRBV29-1,ZNF777,TRBVA,TRBV5-2,PRKAG2,MRPS33,LUC7L2,ATP6V0A4,HIPK2,TMEM176B,TAS2R3,REPIN1,NUB1,TAS2R4,CHPF2,GIMAP5,AGK,TRPV6,DYNC2I1,GIMAP4,TMEM176A,NCAPG2,TAS2R5,KMT2C,ESYT2,KIAA1549,ACTR3B,TRPV5,ZC3HAV1,ZNF398,DENND11,LMBR1,PARP12,NOM1,GALNT11,LRRC61,LINC00244,OR9P1P,KDM7A,TMUB1,SLC37A3,OR9N1P,ZNF767P,TTC26,ADCK2,ZC3HAV1L,MGAM2,OR6W1P,KRBA1,AGAP3,OR9A4,SVOPL,OR2A15P,PRSS3P3,OR6B1,IMPDH1P3,PRSS58,OR2F2,COX6B1P1,RNF32,ASB10,ZNF786,OR9A2,LLCFC1,OR2A14,NOBOX,TMEM139,PRSS37,CRYGN,RBM33,ATP6V0E2,OR2A3P,GALNTL5,CCT8L1P,PRSS59P,GIMAP8,C7orf33,FMC1,FABP5P3,PRSS3P1,LINC00689,GIMAP7,ZNF746,GIMAP1,TMEM213,ZNF467,PAXIP1-DT,ZNF425,CLEC2L,MNX1,GBX1,HTR5A,INSIG1,TAS2R41,TAS2R40,UBN2,TAS2R39,ATG9B,BLACE,TAS2R60,CNPY1,LINC00996,WEE2-AS1,TAS2R62P,TCAF2,EPHA1-AS1,THAP5P1,CTAGE6,ZNF775,KLRG2,GSTK1,OR2A1,OR2A12,OR6V1,WDR86,OR2Q1P,OR2A25,OR2A5,OR10AC1,IQCA1L,OR9A3P,OR2R1P,STRADBP1,OR2A13P,ATP6V0E2-AS1,RAB19,OR2A41P,OR2A42,OR2AO1P,CTAGE15,RPL32P17,OR2A20P,OR2A9P,MIR153-2,OR2A7,RPL7P59,GIMAP3P,OR2A2,MYL6P4,WEE2,ARHGEF35,PTMAP10,GIMAP6,TAS2R6P,MNX1-AS1,ZNF862,UQCRFS1P2,ATP5PBP3,MIR595,TCAF2P1,TCAF1P1,ACTR3C,ARHGEF34P,CCT4P1,MIR671,HINT1P1,PAICSP5,PAICSP6,RPS27AP12,HTR5A-AS1,YBX1P4,PIP5K1P2,BET1P1,CTAGE4,PPP1R2P6,LINC01003,NDUFB2,KEL,NOS3,KCNH2,RNU7-20P,PAXIP1-AS2,NDUFB2-AS1,WDR86-AS1,KDM7A-DT,CTAGE8,MOXD2P,RPS3AP28,MTND1P3,SEPTIN7P6,ZNF783,MIR548F4,EEF1A1P10,DPY19L4P2,EI24P4,CAPZA1P5,PRKAG2-AS1,SLC16A1P1,MTRNR2L6,MIR3907,GIMAP1-GIMAP5,TMEM178B,PTPRN2-AS1,TCAF2C,ERHP1,MIR5707,MTND2P5,RNA5SP248,DUTP3,RNA5SP247,RNA5SP249,RANP2,FMC1-LUC7L2,RNF32-AS1,TAS2R38,PRSS1,RHEB,PTPRN2,RNY1,PIP,RARRES2,RNY3,RNY4,PRSS2,ARHGEF35-AS1,CNTNAP2-AS1,FAM131B-AS1,OR2A1-AS1,MZT1P2,GHET1,MIR6892,LINC01287,TMEM139-AS1,INSIG1-DT,LINC01022,ZNF775-AS1,REPIN1-AS1,AGK-DT,MNX1-AS2,RN7SL76P,RN7SKP280,WBP1LP1,RN7SKP174,SHH,SMARCD3,ETF1P2,SLC4A2,SSBP1,TBXAS1,VIPR2,RNU6ATAC40P,RNU1-82P,RNU6-797P,RNU6-911P,RN7SL535P,RNU6-604P,RNU6-1272P,RN7SL521P,RNU4-74P,RNU6-650P,RN7SL771P,RN7SL481P,RNU6-267P,RNU6-85P,RN7SL569P,RNU4-31P,RN7SL456P,RN7SL72P,RNU6-162P,RNU6-206P,MTCO1P55,RNU1-58P,RNU6-1184P,PAXBP1P1,RN7SL845P,NDUFB10P2,PGBD4P1,PPIAP83,ZNF212,XRCC2,ARHGEF5,TRIM24,ZYX,MGAM,ZNF282,CUL1,ABCF2,FAM131B,TCAF1,UBE3C,PDIA4,DNAJB6,ASIC3,NPM1P12,FASTK,ABCB8,CLEC5A,SSPOP,PAXIP1,OR2F1,MKRN1,GIMAP2,CNTNAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002630
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PSMC1P3,MIR490,KRT8P51,RN7SKP223,RCC2P3,MIR4468,IMPDH1P3,UQCRFS1P2,RNU6-1272P,MZT1P2,RNU6-206P,RNU6-911P,ERHP1,KDM7A-DT,RNU6-797P,RNU1-58P,PPP1R2P6,RNA5SP247,RNA5SP248,RN7SL771P,NDUFB2-AS1,RNU6-85P,CCT4P1,MRPS33,RNU4-74P,NDUFB10P2,RNU1-82P,TAS2R3,TAS2R4,TAS2R6P,TAS2R5,MTCO1P55,MTND2P5,MTND1P3,MYL6P4,OR9A3P,OR9A1P,OR9N1P,TAS2R38,PRSS58,TRY2P,PRSS3P3,TRBV1,TRBV2,TRBV3-1,TRBV4-1,TRBV5-1,TRBV6-1,TRBV7-1,TRBV4-2,TRBV6-2,TRBV7-2,TRBV8-1,TRBV5-2,TRBV6-4,TRBV7-3,TRBV8-2,TRBV5-3,TRBV9,TRBV10-1,TRBV11-1,TRBV12-1,TRBV10-2,TRBV11-2,TRBV12-2,TRBV6-5,TRBV7-4,TRBV5-4,TRBV6-6,TRBV7-5,TRBV5-5,TRBV6-7,TRBV7-6,TRBV5-6,TRBV6-8,TRBV7-7,TRBV5-7,TRBV7-9,TRBV13,TRBV10-3,TRBV11-3,TRBV12-3,TRBV12-4,TRBV12-5,TRBV14,TRBV15,TRBV16,TRBV17,TRBV18,TRBV19,TRBV20-1,TRBV21-1,TRBV22-1,TRBV23-1,TRBV24-1,MTRNR2L6,TRBV25-1,TRBVA,TRBV26,TRBVB,TRBV27,PGBD4P1,TRBV29-1,PRSS1,PRSS3P1,WBP1LP1,TRBD1,TRBJ1-1,TRBJ1-2,TRBJ1-3,TRBJ1-4,TRBJ1-5,TRBJ1-6,TRBC1,TRBJ2-1,TRBJ2-2,TRBJ2-2P,TRBJ2-3,TRBJ2-4,TRBJ2-5,TRBJ2-6,TRBJ2-7,TRBC2,TRBV30,LLCFC1,OR9A2,OR9P1P,OR6V1,OR6W1P,PIP,TAS2R39,TAS2R40,TMEM139,RN7SL535P,RN7SL481P,HINT1P1,ZYX,MIR6892,TAS2R62P,TAS2R60,TAS2R41,OR2R1P,OR10AC1,PAICSP5,RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,OR2A20P,CTAGE8,OR2A9P,OR2A1,PPIAP83,RNU6ATAC40P,EEF1A1P10,RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,DUTP3,RANP2,MIR548F4,RNU6-1184P,RNA5SP249,RN7SL456P,RN7SL72P,RNU7-20P,RN7SL569P,RNY3,RNY1,GHET1,RNU6-650P,COX6B1P1,RN7SL521P,NPM1P12,ATP6V0E2-AS1,ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,ATP6V0A4,ZC3HAV1L,TTC26,UBN2,FMC1,LUC7L2,CLEC2L,PARP12,RAB19,MKRN1,ADCK2,NDUFB2,WEE2-AS1,WEE2,SSBP1,PRSS37,OR9A4,CLEC5A,MOXD2P,TRBV28,PRSS2,TRPV6,TRPV5,KEL,CASP2,CLCN1,FAM131B,EPHA1-AS1,CTAGE15,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,NOBOX,C7orf33,EZH2,RNY4,PDIA4,ZNF786,ZNF425,ZNF282,ZNF212,ZNF777,ZNF746,KRBA1,ZNF467,ZNF862,ATP6V0E2,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,CHRM2,PTN,DGKI,CREB3L2,AKR1D1,TRIM24,SVOPL,TMEM213,KIAA1549,ZC3HAV1,HIPK2,TBXAS1,KDM7A,SLC37A3,DENND2A,BRAF,TMEM178B,KIAA1147,MGAM,MGAM2,EPHB6,GSTK1,EPHA1,OR2A1-AS1,CUL1,ZNF398,ZNF783,ZNF767P,SSPO,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,KLRG2,AGK,TCAF2,TPK1,CNTNAP2,GALNT11,DPP6,PTPRN2,NOS3
Controls
No Control Data Available
No Animal Model Data Available