A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730818



Internal ID21757139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:71866158..71866158hg38UCSC Ensembl
chr16:71900061..71900061hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252823, nssv17243925
Samples
Known GenesZNF821
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)nsv5730818
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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