A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727842



Internal ID21754163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19987130..19987130hg38UCSC Ensembl
chr20:19967774..19967774hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38618
hg19618
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235559, nssv17240376
Samples
Known GenesRIN2
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)nsv5727842
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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