A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17228642



Internal ID21676151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22811525..22811525hg38UCSC Ensembl
chr18:20391488..20391488hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697713
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)nssv17228642
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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