A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687242



Internal ID21713563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169225637..169225637hg38UCSC Ensembl
chr4:170146788..170146788hg19UCSC Ensembl
Cytoband4q33
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 Variantsnssv17174944, nssv17209903
Samples
Known GenesSH3RF1
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)nsv5687242
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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