A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234060



Internal ID21681569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70520579..70520579hg38UCSC Ensembl
chr14:70987296..70987296hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715606
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17234060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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