A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718379



Internal ID21744700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52776248..52776248hg38UCSC Ensembl
chr14:53242966..53242966hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241098
Samples
Known GenesGNPNAT1
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)nsv5718379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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