A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723068



Internal ID21749389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56935938..56935938hg38UCSC Ensembl
chr16:56969850..56969850hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252966, nssv17247919
Samples
Known GenesHERPUD1
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)nsv5723068
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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