A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201834



Internal ID21649343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48462449..48462449hg38UCSC Ensembl
chr18:45988820..45988820hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5695676
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)nssv17201834
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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