16q23.1-q24.3CNV Type: Duplication
Largest CNV size: 13210927 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Duplications within this region were found in two 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...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
Duplication
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_22_DD/ID_discovery_cases
Patients recruited at the Children's Hospital of Chongqing Medical University, from September 2016 to April 2020.
69
Patients presented with developmental delay/intellectual disability (DD/ID), with or without multiple congenital anomalies (MCA).
Average age at diagnosis, 19 mos.
50.725% Male
11780567
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
13210927
0
2
2
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
12086547
0
1
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
11861738
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
10368000
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
chen_22_DD/ID_discovery_cases
China
WGS
Illumina NovaSeq 6000
NA
Chigene
None
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
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
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
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
chen_22_DD/ID_discovery_cases-case28
36 mos.
M
Developmental delay and intellectual disability
Gesell scores: 41-31-46-35-39. Clinical profile: motor retardation, speech and language retardation, facial abnormalities, hypospadias, kyphosis, finger bending, and short stature.
Intellectual disability.
78299942
90080508
11780567
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000847
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
78816291
90081985
11265695
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001785
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
76873569
90081985
13208417
GRCh38
Duplication
Yes
levchenko_22_DD/ID_discovery_cases-caseD362
NA
F
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder; no additional clinical information was provided.
78002108
90088654
12086547
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case189
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
78220834
90082571
11861738
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case13
12 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies
78353263
88688963
10335701
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
chen_22_DD/ID_discovery_cases-case28
De novo
CDH13,GAS8-AS1,APRT,CA5A,CBFA2T3,CDH15,AFG3L1P,DPEP1,FOXC2,COX4I1,FOXL1,FANCA,FOXF1,CYBA,CPNE7,IL17C,TRAPPC2L,BCO1,WWOX,ANKRD11,GINS2,OSGIN1,ZDHHC7,KLHDC4,DEF8,NECAB2,BANP,CMC2,CENPN,WFDC1,JPH3,MEAK7,DBNDD1,KLHL36,MTHFSD,FBXO31,HSDL1,CMIP,CDT1,MAP1LC3B,CRISPLD2,DYNLRB2,ZNF276,KCNG4,SPIRE2,SDR42E1,ZNF469,RNF166,SPATA33,CDYL2,ZC3H18,SPATA2L,C16orf46,PKD1L2,DNAAF1,LINC02135,SLC22A31,SLC38A8,ACSF3,LINC00311,ADAD2,ZNF778,SNAI3-AS1,ZFPM1,GAS8,HSD17B2,IRF8,GCSH,GALNS,HSBP1,LINC00304,CIBAR2,SNAI3,CTU2,LINC02139,PABPN1L,FENDRR,LINC02138,LINC02181,C16orf74,SNORD68,RPS3P7,LINC00917,PPIAP51,URAHP,VPS9D1-AS1,ZFPM1-AS1,MC1R,MAF,MVD,LSM3P5,MIR1910,MIR3182,MIR4722,LINC01082,C16orf95,MIR4720,MIR5189,MIR5093,RNA5SP432,RNA5SP433,ARLNC1,RNA5SP431,LINC01081,PLCG2,RPL13,CHMP1A,LINC02182,LINC01229,C16orf95-DT,LINC02189,LINC01227,ZCCHC14-DT,MAFTRR,DYNLRB2-AS1,MIR6774,MIR7854,MIR8058,LINC02188,MIR6504,MIR6775,FOXC2-AS1,LINC01228,ATP2C2-AS1,LINC02166,LINC02176,RN7SL134P,RN7SL381P,SPG7,RNU6-430P,RN7SKP190,RNU6-1191P,RN7SKP176,COX6CP16,RNU1-103P,MTCYBP28,CENPN-AS1,LINC02132,MBTPS1,GAN,CDK10,SLC7A5,TAF1C,MPHOSPH6-DT,MBTPS1-DT,VPS9D1,MPHOSPH6,USP10,ATP2C2,PIEZO1,KIAA0513,EMC8,TUBB3,PRDM7,COTL1,ATMIN,MLYCD,TCF25,GSE1,ZCCHC14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000847
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS3P7,RNA5SP431,LINC01227,ATMIN,RNU6-1191P,MIR4720,PPIAP51,MIR7854,MIR6504,RN7SKP176,MTCYBP28,RN7SKP190,MIR8058,RN7SL134P,MIR3182,HSBP1,RNA5SP432,ADAD2,COX6CP16,LINC00311,MIR5093,RN7SL381P,MIR1910,RNU1-103P,MIR6774,LINC02132,LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC02189,LINC02181,ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,RPL13,SNORD68,SPATA2L,VPS9D1-AS1,CENPBD1,GAS8-AS1,MAF,MAFTRR,DYNLRB2,CENPN,C16orf46,GCSH,GAN,SDR42E1,MPHOSPH6,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,GINS2,EMC8,COX4I1,IRF8,LINC01082,LINC00917,MTHFSD,FLJ30679,LINC02188,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,CPNE7,DPEP1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,DBNDD1,GAS8,PRDM7,LINC01228,ARLNC1,CMC2,PKD1L2,BCO1,CMIP,HSD17B2,SLC38A8,DNAAF1,ATP2C2,KIAA0513,GSE1,C16orf74,LINC01081,FENDRR,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,CHMP1A,FANCA,MC1R,URAHP,WWOX,LINC01229,CDYL2,PLCG2,CDH13,LINC02176,ACSF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001785
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
VN2R10P,PPIAP50,KRT8P22,WWOX-AS1,LSM3P5,RPS3P7,RNA5SP431,LINC01227,ATMIN,RNU6-1191P,MIR4720,PPIAP51,MIR7854,MIR6504,RN7SKP176,MTCYBP28,RN7SKP190,MIR8058,RN7SL134P,MIR3182,HSBP1,RNA5SP432,ADAD2,COX6CP16,LINC00311,MIR5093,RN7SL381P,MIR1910,RNU1-103P,MIR6774,LINC02132,LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC02189,LINC02181,ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,RPL13,SNORD68,SPATA2L,VPS9D1-AS1,CENPBD1,GAS8-AS1,CLEC3A,MAF,MAFTRR,DYNLRB2,CENPN,C16orf46,GCSH,GAN,SDR42E1,MPHOSPH6,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,GINS2,EMC8,COX4I1,IRF8,LINC01082,LINC00917,MTHFSD,FLJ30679,LINC02188,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,CPNE7,DPEP1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,DBNDD1,GAS8,PRDM7,MON1B,SYCE1L,ADAMTS18,NUDT7,VAT1L,LINC01228,ARLNC1,CMC2,PKD1L2,BCO1,CMIP,HSD17B2,SLC38A8,DNAAF1,ATP2C2,KIAA0513,GSE1,C16orf74,LINC01081,FENDRR,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,CHMP1A,FANCA,MC1R,URAHP,LINC02131,WWOX,LINC01229,CDYL2,PLCG2,CDH13,LINC02176,ACSF3
levchenko_22_DD/ID_discovery_cases-caseD362
Unknown
CDH13,GAS8-AS1,APRT,CA5A,CBFA2T3,CDH15,AFG3L1P,DPEP1,FOXC2,COX4I1,FOXL1,FANCA,FOXF1,CYBA,CPNE7,IL17C,TRAPPC2L,BCO1,WWOX,ANKRD11,GINS2,OSGIN1,ZDHHC7,KLHDC4,DEF8,NECAB2,BANP,CMC2,CENPN,WFDC1,JPH3,MEAK7,DBNDD1,KLHL36,MTHFSD,FBXO31,HSDL1,CMIP,CDT1,MAP1LC3B,CRISPLD2,DYNLRB2,ZNF276,KCNG4,SPIRE2,SDR42E1,ZNF469,RNF166,SPATA33,CDYL2,ZC3H18,SPATA2L,C16orf46,PKD1L2,DNAAF1,LINC02135,SLC22A31,SLC38A8,ACSF3,LINC00311,ADAD2,ZNF778,SNAI3-AS1,ZFPM1,GAS8,HSD17B2,IRF8,GCSH,GALNS,HSBP1,LINC00304,CIBAR2,SNAI3,KRT8P22,CTU2,LINC02139,PABPN1L,FENDRR,LINC02138,LINC02181,C16orf74,SNORD68,RPS3P7,LINC00917,PPIAP51,URAHP,VPS9D1-AS1,ZFPM1-AS1,MC1R,MAF,MVD,LSM3P5,MIR1910,MIR3182,MIR4722,LINC01082,C16orf95,MIR4720,MIR5189,MIR5093,RNA5SP432,RNA5SP433,ARLNC1,RNA5SP431,LINC01081,PLCG2,RPL13,CHMP1A,LINC02182,LINC01229,C16orf95-DT,LINC02189,LINC01227,ZCCHC14-DT,MAFTRR,DYNLRB2-AS1,MIR6774,WWOX-AS1,MIR7854,MIR8058,LINC02188,MIR6504,MIR6775,FOXC2-AS1,LINC01228,ATP2C2-AS1,LINC02166,LINC02176,RN7SL134P,RN7SL381P,SPG7,RNU6-430P,RN7SKP190,RNU6-1191P,RN7SKP176,COX6CP16,RNU1-103P,MTCYBP28,CENPN-AS1,LINC02132,MBTPS1,GAN,CDK10,SLC7A5,TAF1C,MPHOSPH6-DT,MBTPS1-DT,VPS9D1,MPHOSPH6,USP10,ATP2C2,CLEC3A,PIEZO1,KIAA0513,EMC8,TUBB3,PRDM7,COTL1,ATMIN,MLYCD,TCF25,GSE1,ZCCHC14
mahjani_21_ASD_discovery_cases-case189
Unknown
APRT,AFG3L1P,CBFA2T3,CA5A,CDH13,GAS8-AS1,CDH15,FANCA,FOXL1,FOXC2,FOXF1,COX4I1,DPEP1,CYBA,CPNE7,IL17C,WWOX,GINS2,ANKRD11,BCO1,OSGIN1,TRAPPC2L,BANP,ZDHHC7,NECAB2,DEF8,KLHDC4,MEAK7,WFDC1,JPH3,CMC2,CENPN,DBNDD1,KLHL36,FBXO31,MTHFSD,MAP1LC3B,DYNLRB2,CDT1,CRISPLD2,HSDL1,CMIP,ZNF276,KCNG4,SPIRE2,ZNF469,SDR42E1,SPATA33,RNF166,CDYL2,PKD1L2,SPATA2L,C16orf46,DNAAF1,ZC3H18,LINC02135,FLJ30679,SLC22A31,SLC38A8,ADAD2,ZNF778,ZFPM1,SNAI3-AS1,LINC00311,ACSF3,GAS8,GCSH,IRF8,HSBP1,HSD17B2,GALNS,LINC00304,SNAI3,CIBAR2,CTU2,LINC02138,FENDRR,PABPN1L,LINC02139,LINC02181,C16orf74,SNORD68,RPS3P7,PPIAP51,LINC00917,ZFPM1-AS1,VPS9D1-AS1,URAHP,MVD,MC1R,MAF,LSM3P5,MIR1910,MIR3182,LINC01082,C16orf95,MIR4722,MIR4720,MIR5189,MIR5093,RNA5SP431,ARLNC1,RNA5SP433,RNA5SP432,LINC01081,CHMP1A,PLCG2,RPL13,LINC01229,LINC01227,LINC02189,LINC02182,ZCCHC14-DT,C16orf95-DT,MAFTRR,DYNLRB2-AS1,MIR6775,LINC02188,MIR6504,MIR6774,MIR7854,WWOX-AS1,MIR8058,FOXC2-AS1,LINC01228,LINC02176,LINC02166,ATP2C2-AS1,RN7SL381P,RN7SL134P,SPG7,RNU6-430P,RN7SKP190,RNU1-103P,RNU6-1191P,MTCYBP28,COX6CP16,RN7SKP176,CENPN-AS1,LINC02132,GAN,MBTPS1,SLC7A5,TAF1C,CDK10,MBTPS1-DT,MPHOSPH6-DT,USP10,MPHOSPH6,VPS9D1,KIAA0513,PIEZO1,ATP2C2,PRDM7,EMC8,TUBB3,COTL1,MLYCD,ATMIN,GSE1,TCF25,ZCCHC14
sansovic_17_DD/ID/ASD_discovery_cases-case13
Unknown
LSM3P5,RPS3P7,RNA5SP431,LINC01227,ATMIN,RNU6-1191P,MIR4720,PPIAP51,MIR7854,MIR6504,RN7SKP176,MTCYBP28,RN7SKP190,MIR8058,RN7SL134P,MIR3182,HSBP1,RNA5SP432,ADAD2,COX6CP16,LINC00311,MIR5093,RN7SL381P,MIR1910,RNU1-103P,MIR6774,LINC02132,LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC02189,LINC02181,ZNF469,MIR5189,IL17C,CYBA,SNAI3,MAF,MAFTRR,DYNLRB2,CENPN,C16orf46,GCSH,GAN,SDR42E1,MPHOSPH6,MLYCD,OSGIN1,NECAB2,MBTPS1,HSDL1,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,GINS2,EMC8,COX4I1,IRF8,LINC01082,LINC00917,MTHFSD,FLJ30679,LINC02188,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,LINC01228,ARLNC1,CMC2,PKD1L2,BCO1,CMIP,HSD17B2,SLC38A8,DNAAF1,ATP2C2,KIAA0513,GSE1,C16orf74,LINC01081,FENDRR,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,WWOX,LINC01229,CDYL2,PLCG2,CDH13,LINC02176
Controls
No Control Data Available
No Animal Model Data Available