9p24.3-p21.3CNV Type: Duplication
Largest CNV size: 21882664 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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
20158352
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
21882664
0
1
1
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
20560000
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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
han_22_ASD/DD/ID_discovery_cases-case15D1344
1 yr.
M
Developmental delay/Intellectual disability
258491
20416842
20158352
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001188
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
22086858
21882666
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530530
F
Intellectual disability
Abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249).
1
20560000
20560000
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
han_22_ASD/DD/ID_discovery_cases-case15D1344
De novo
PLIN2,MLANA,DMRT1,RANBP6,CD274,AK3,DENND4C,HAUS6,BNC2,SPATA6L,CNTLN,CDC37L1,PLGRKT,DMRT3,RIC1,ERMP1,DOCK8,PDCD1LG2,ADAMTSL1,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP3,ATP5PDP2,LDHAP4,CCDC171,KIAA2026,FREM1,KCNV2,SAXO1,RPL4P5,TTC39B,GLIS3,INSL4,IGHEP2,GLDC,FTH1P12,ZDHHC21,RPL7P33,ACER2,LURAP1L,PSIP1P1,PES1P2,MAP1LC3BP1,PPIAP33,GPS2P1,RPS26P3,PLPP6,SNRPEP2,MIR101-2,LINC01235,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,AKAP8P1,IMP3P1,SCARNA8,HMGN2P16,JKAMPP1,LINC00583,TCF3P1,AK4P4,C9orf92,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,MLLT3,JAK2,NFIB,GTF3AP1,RPL3P11,RNF2P1,RPL12P25,NDUFA5P3,RPS27AP14,SAMM50P1,RNF152P1,ACTG1P14,CLCN3P1,ECM1P1,KLF4P1,CSNK1G2P1,CDCA4P1,PABPC1P11,MIR3152,EIF1P1,RAP1BP1,MIR4473,MIR4665,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,LSM1P1,RNU6-14P,RPS3AP54,PTPRD,RPS6,RLN1,RN7SL5P,RFX3,RLN2,LURAP1L-AS1,CDC37L1-DT,LINC01231,PTPRD-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,RN7SL98P,SLC1A1,PRDX1P1,SMARCA2,SH3GL2,SNAPC3,TYRP1,VLDLR,RNU6-694P,RNU2-25P,C11orf98P1,RN7SL849P,RNU6-264P,RN7SL720P,MTND6P5,RNU2-47P,RN7SKP258,RNU6-319P,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-246P,RNU6-1073P,RNU6-1260P,RNU6-1327P,RNU6-559P,MTATP6P11,RPS29P33,BNC2-AS1,MPDZ,H3P29,CER1,RCL1,PUM3,RRAGA,PSIP1,DMRT2,INSL6,KDM4C,KANK1,SLC24A2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001188
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,PES1P2,ATP5PDP3,CDCA4P1,CER1,RNU6-1260P,LDHAP4,RNU6-559P,RPL7P33,RNU6-319P,RN7SL98P,FTH1P12,RNU6-246P,HMGN2P16,RNU6-14P,BNC2-AS1,LSM1P1,RN7SL720P,RPS29P33,SAMM50P1,PABPC1P11,MIR3152,RN7SKP258,RAP1BP1,RRAGA,SCARNA8,RNU6-264P,RPS6,NDUFA5P3,C11orf98P1,MIR4473,RNU4-26P,MIR4474,FOCAD-AS1,MIR491,SNORA30B,IFNNP1,IFNB1,IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,KHSRPP1,RN7SL151P,TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,LINC00583,RPL3P11,SNAPC3,HAUS6,ACER2,MAP1LC3BP1,HACD4,IFNA16,KLHL9,CDKN2A,CDKN2B,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,MPDZ,NFIB,FREM1,CLCN3P1,TTC39B,PSIP1,C9orf92,CNTLN,SH3GL2,PLIN2,DENND4C,SLC24A2,MLLT3,MIR31HG,MTAP,LINC01230,SMARCA2,GLIS3,ZDHHC21,CCDC171,ADAMTSL1,SAXO1,FOCAD,CDKN2B-AS1,PTPRD,BNC2
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530530
Unknown
PLIN2,MLANA,DMRT1,FOXD4,RANBP6,CD274,AK3,DENND4C,HAUS6,BNC2,SPATA6L,CNTLN,CDC37L1,PLGRKT,DMRT3,RIC1,CBWD1,ERMP1,DOCK8,PDCD1LG2,ADAMTSL1,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP3,ATP5PDP2,LDHAP4,CCDC171,DOCK8-AS1,KIAA2026,FREM1,KCNV2,SAXO1,RPL4P5,TTC39B,GLIS3,INSL4,IGHEP2,GLDC,FTH1P12,ZDHHC21,RPL7P33,ACER2,LURAP1L,PSIP1P1,PES1P2,MAP1LC3BP1,PPIAP33,GPS2P1,RPS26P3,PLPP6,SNRPEP2,MIR101-2,LINC01235,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,AKAP8P1,IMP3P1,SCARNA8,FAM138C,HMGN2P16,JKAMPP1,LINC00583,TCF3P1,AK4P4,C9orf92,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,MLLT3,JAK2,NFIB,GTF3AP1,RPL3P11,RNF2P1,RPL12P25,NDUFA5P3,DDX11L5,RPS27AP14,SAMM50P1,WASHC1,RNF152P1,ACTG1P14,CLCN3P1,ECM1P1,KLF4P1,CSNK1G2P1,CDCA4P1,PABPC1P11,MIR3152,MIR1302-9,EIF1P1,RAP1BP1,MIR4473,MIR4665,MIR4474,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,LSM1P1,RNU6-14P,RPS3AP54,PTPRD,RPS6,RLN1,RN7SL5P,RFX3,RLN2,LURAP1L-AS1,CDC37L1-DT,LINC01231,LINC01388,PTPRD-AS1,PGM5P3-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,RN7SL98P,SLC1A1,PRDX1P1,SMARCA2,SH3GL2,SNAPC3,TYRP1,VLDLR,RNU6-694P,RNU2-25P,C11orf98P1,RNU4-26P,RN7SL849P,RNU6-264P,RN7SL720P,MTND6P5,RNU2-47P,RN7SKP258,RNU6-319P,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-246P,RNU6-1073P,RNU6-1260P,RNU6-1327P,RNU6-559P,MTATP6P11,MIR1302-9HG,RPS29P33,BNC2-AS1,MPDZ,H3P29,CER1,RCL1,PUM3,RRAGA,PSIP1,DMRT2,INSL6,KDM4C,KANK1,SLC24A2
Controls
No Control Data Available
No Animal Model Data Available