A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17175747



Internal ID21623256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:159310997..159310997hg38UCSC Ensembl
chr4:160232149..160232149hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692542
Supporting Variants
Samples
Known GenesRAPGEF2
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)nssv17175747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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