A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244276



Internal ID21691785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56889302..56889302hg38UCSC Ensembl
chr20:55464358..55464358hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717030
Supporting Variants
Samples
Known Genes
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)nssv17244276
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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