A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17175419



Internal ID21622928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39256882..39256882hg38UCSC Ensembl
chr5:39256984..39256984hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678825
Supporting Variants
Samples
Known GenesFYB
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)nssv17175419
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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