A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682990



Internal ID21709311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8338631..8338631hg38UCSC Ensembl
chr5:8338744..8338744hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175323
Samples
Known GenesLOC729506
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)nsv5682990
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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