A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692542



Internal ID21718863
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 StatusM
Merged Variants
Supporting Variantsnssv17212594, nssv17175747
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)nsv5692542
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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