A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685684



Internal ID21712005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110992460..110992460hg38UCSC Ensembl
chr6:111313663..111313663hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179597
Samples
Known GenesRPF2
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)nsv5685684
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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