A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17196659



Internal ID21644168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95913157..95913157hg38UCSC Ensembl
chr14:96379494..96379494hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5698225
Supporting Variants
Samples
Known GenesLINC00617
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)nssv17196659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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