A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720461



Internal ID21746782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66229542..66229542hg38UCSC Ensembl
chr16:66263445..66263445hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237884
Samples
Known Genes
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)nsv5720461
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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