A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688831



Internal ID21715152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87301477..87301477hg38UCSC Ensembl
chr5:86597294..86597294hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177815, nssv17212267
Samples
Known GenesRASA1
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)nsv5688831
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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