A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17194837



Internal ID21642346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64960621..64960621hg38UCSC Ensembl
chr14:65427339..65427339hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703542
Supporting Variants
Samples
Known GenesCHURC1-FNTB, RAB15
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)nssv17194837
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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