A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17208905



Internal ID21656414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45638027..45638027hg38UCSC Ensembl
chr3:45679519..45679519hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5680202
Supporting Variants
Samples
Known GenesLIMD1
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)nssv17208905
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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