A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202565



Internal ID21650074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44162745..44162745hg38UCSC Ensembl
chr20:42791385..42791385hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5695576
Supporting Variants
Samples
Known GenesJPH2
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)nssv17202565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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