A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236082



Internal ID21683591
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 StatusS
Merged Variantsnsv5716376
Supporting Variants
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)nssv17236082
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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