A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17194827



Internal ID21642336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52445134..52445134hg38UCSC Ensembl
chr14:52911852..52911852hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709943
Supporting Variants
Samples
Known GenesTXNDC16
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)nssv17194827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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