A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17196897



Internal ID21644406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75886876..75886876hg38UCSC Ensembl
chr14:76353219..76353219hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702674
Supporting Variants
Samples
Known GenesTTLL5
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)nssv17196897
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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