A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685334



Internal ID21711655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145683030..145683030hg38UCSC Ensembl
chr4:146604182..146604182hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174725
Samples
Known GenesC4orf51
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)nsv5685334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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