14q24.2-q24.3CNV Type: Duplication
Largest CNV size: 480462 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
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
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
480462
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
4184704
1
0
1
mitani_21_DD/ID_discovery_cases
Individuals from 234 newly enrolled (175 simplex families, 54 families with two affected, four families with three affected, and one family with four affected) Turkish families in the Turkish brain malformation/NDD cohort #2 (TBM2) cohort of Baylor-Hopkins Center for Mendelian Genomics (BHCMG) with a spectrum of neurodevelopmental disorder phenotypes.
299
Cases presented with brain malformations and/or neurodevelopmental disorders, with the most frequently observed NDDs being developmental delay (DD) and/or intellectual disability (ID).
NA
NA
4739099
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
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
mitani_21_DD/ID_discovery_cases
Turkey
WES, WGS
Illumina HiSeq2000, Illumina NovaSeq6000
NA
XHMM, HMZDelFinder, AluAluCNVpredictor, Parliament2
aCGH and/or ddPCR
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-ISCA00002129
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72886764
73367226
480463
GRCh38
Duplication
Yes
mahjani_21_ASD_discovery_cases-case199
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
70719654
74904357
4184704
GRCh38
Deletion
No
mitani_21_DD/ID_discovery_cases-caseBAB13591
NA
M
NDD
70730378
75469476
4739099
GRCh38
Deletion
Yes
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-ISCA00002129
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL586P,RNU6-419P,DCAF4,RBM25,DPF3,ZFYVE1,PSEN1,PAPLN,NUMB
mahjani_21_ASD_discovery_cases-case199
Unknown
ENTPD5,DLST,ZFYVE1,COQ6,FCF1,VRTN,RBM25,ZNF410,YLPM1,RIOX1,RPS6KL1,BBOF1,DNAL1,MIDEAS,PAPLN,LIN52,ISCA2,ACOT4,FAM161B,PTGR2,PROX2,NT5CP1,NDUFB8P1,RPS2P2,VSX2,PTTG4P,NT5CP2,SNORD56B,HEATR4,ACOT6,ACOT1,SYNDIG1L,MAP3K9,ALDH6A1,LTBP2,SUB1P2,MAP3K9-DT,MIR4505,MIR4709,LINC02274,PSEN1,ABCD4,RAP1AP,PAPLN-AS1,SIPA1L1-AS1,MIR7843,RBM25-AS1,RNU6-419P,RNU6-240P,RN7SL586P,RN7SL683P,RN7SL530P,GTF3AP2,DPF3,NUMB,AREL1,RGS6,PNMA1,ACOT2,NPC2,PCNX1,SIPA1L1,DCAF4
mitani_21_DD/ID_discovery_cases-caseBAB13591
aCGH and/or ddPCR
De novo
Simplex
Segregated
ENTPD5,ACYP1,DLST,FOS,MLH3,COQ6,FCF1,ZFYVE1,VRTN,ZNF410,RBM25,YLPM1,ZC2HC1C,RIOX1,BBOF1,DNAL1,RPS6KL1,NEK9,PAPLN,MIDEAS,LIN52,JDP2,ACOT4,ISCA2,PTGR2,FAM161B,PROX2,NDUFB8P1,VSX2,PTTG4P,NT5CP1,SNORD56B,RPS2P2,NT5CP2,HEATR4,ACOT1,ACOT6,DPPA5P4,SYNDIG1L,LINC01220,LTBP2,MAP3K9,ALDH6A1,SUB1P2,LINC02274,MAP3K9-DT,MIR4709,MIR4505,HIF1AP1,ABCD4,PSEN1,RAP1AP,PGF,PAPLN-AS1,JDP2-AS1,MIR7843,SIPA1L1-AS1,RBM25-AS1,RNU6-419P,RNU6-240P,RNU6-689P,RN7SL530P,RNU4ATAC14P,RN7SL683P,RN7SL586P,GTF3AP2,DPF3,NUMB,EIF2B2,RGS6,AREL1,PNMA1,TMED10,ACOT2,NPC2,PCNX1,SIPA1L1,DCAF4
Controls
No Control Data Available
No Animal Model Data Available