A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17196670



Internal ID21644179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:97092126..97092126hg38UCSC Ensembl
chr14:97558463..97558463hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709929
Supporting Variants
Samples
Known Genes
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)nssv17196670
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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