A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205927



Internal ID21653436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15903045..15903045hg38UCSC Ensembl
chr2:16043168..16043168hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5691832
Supporting Variants
Samples
Known Genes
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)nssv17205927
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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