A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230882



Internal ID21678391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55049215..55049215hg38UCSC Ensembl
chr12:55442999..55442999hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5698030
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)nssv17230882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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