A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17198471



Internal ID21645980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65037800..65037800hg38UCSC Ensembl
chr17:63033918..63033918hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5698091
Supporting Variants
Samples
Known GenesGNA13
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)nssv17198471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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