A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239712



Internal ID21687221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54282775..54282775hg38UCSC Ensembl
chr18:51809145..51809145hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729166
Supporting Variants
Samples
Known GenesPOLI
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)nssv17239712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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