A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189928



Internal ID21637437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:27108734..27108734hg38UCSC Ensembl
chr11:27130281..27130281hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703539
Supporting Variants
Samples
Known GenesBBOX1
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)nssv17189928
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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