A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178449



Internal ID21625958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79697477..79697477hg38UCSC Ensembl
chr6:80407194..80407194hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686667
Supporting Variants
Samples
Known GenesSH3BGRL2
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)nssv17178449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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