A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233247



Internal ID21680756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76170159..76170159hg38UCSC Ensembl
chr18:73882114..73882114hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700522
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)nssv17233247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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