A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729431



Internal ID21755752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39077768..39077768hg38UCSC Ensembl
chr14:39546972..39546972hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237516
Samples
Known GenesSEC23A
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)nsv5729431
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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