A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719356



Internal ID21745677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39065062..39065062hg38UCSC Ensembl
chr14:39534266..39534266hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246581, nssv17248285
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)nsv5719356
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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