A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17204403



Internal ID21651912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53539676..53539676hg38UCSC Ensembl
chr2:53766814..53766814hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679327
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)nssv17204403
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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