A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687974



Internal ID21714295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159778429..159778429hg38UCSC Ensembl
chr2:160634940..160634940hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217564
Samples
Known GenesCD302, LY75-CD302
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)nsv5687974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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