A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240376



Internal ID21687885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19987130..19987130hg38UCSC Ensembl
chr20:19967774..19967774hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727842
Supporting Variants
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)nssv17240376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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