A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201404



Internal ID21648913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50860289..50860289hg38UCSC Ensembl
chr19:51363545..51363545hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5705917
Supporting Variants
Samples
Known GenesKLK3
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)nssv17201404
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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