A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680789



Internal ID21707110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119064880..119064880hg38UCSC Ensembl
chr1:119607503..119607503hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177377, nssv17206226
Samples
Known GenesWARS2
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)nsv5680789
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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