A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201888



Internal ID21649397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38107410..38107410hg38UCSC Ensembl
chr2:38334552..38334552hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5683422
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)nssv17201888
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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