A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217281



Internal ID21664790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54619101..54619101hg38UCSC Ensembl
chr14:55085819..55085819hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703360
Supporting Variants
Samples
Known GenesSAMD4A
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)nssv17217281
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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