A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200962



Internal ID21648471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46501968..46501968hg38UCSC Ensembl
chr20:45130607..45130607hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713347
Supporting Variants
Samples
Known GenesZNF334
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)nssv17200962
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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