A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202089



Internal ID21649598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54837102..54837102hg38UCSC Ensembl
chr2:55064239..55064239hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676819
Supporting Variants
Samples
Known GenesEML6
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)nssv17202089
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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