A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200957



Internal ID21648466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46349635..46349635hg38UCSC Ensembl
chr20:44978274..44978274hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708272
Supporting Variants
Samples
Known GenesSLC35C2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17200957
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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