A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221982



Internal ID21669491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232827214..232827214hg38UCSC Ensembl
chr2:233691924..233691924hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5680656
Supporting Variants
Samples
Known GenesGIGYF2
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)nssv17221982
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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