A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705273



Internal ID21731594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51344029..51344029hg38UCSC Ensembl
chr14:51810747..51810747hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194810, nssv17217068
Samples
Known GenesLINC00640
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)nsv5705273
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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