A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724016



Internal ID21750337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158906959..158906959hg38UCSC Ensembl
chr4:159828111..159828111hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244628
Samples
Known GenesC4orf45
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)nsv5724016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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