A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720107



Internal ID21746428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25616808..25616808hg38UCSC Ensembl
chr20:25597444..25597444hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38817
hg19817
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237924, nssv17234056
Samples
Known GenesNANP
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)nsv5720107
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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