A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221363



Internal ID21668872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162040938..162040938hg38UCSC Ensembl
chr2:162897448..162897448hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675124
Supporting Variants
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)nssv17221363
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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