A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696656



Internal ID21722977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50305461..50305461hg38UCSC Ensembl
chr14:50772179..50772179hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194795
Samples
Known GenesL2HGDH
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)nsv5696656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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