A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675214



Internal ID21701535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162015471..162015471hg38UCSC Ensembl
chr2:162871981..162871981hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209345, nssv17220692
Samples
Known GenesDPP4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5675214
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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