A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716376



Internal ID21742697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65049920..65049920hg38UCSC Ensembl
chr14:65516638..65516638hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236082
Samples
Known GenesCHURC1-FNTB, FNTB, MAX
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)nsv5716376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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