A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235347



Internal ID21682856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171930776..171930776hg38UCSC Ensembl
chr5:171357780..171357780hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723401
Supporting Variants
Samples
Known GenesFBXW11
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17235347
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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