A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689682



Internal ID21716003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41869097..41869097hg38UCSC Ensembl
chr6:41836835..41836835hg19UCSC Ensembl
Cytoband6p21.1
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 Variantsnssv17180516
Samples
Known GenesUSP49
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)nsv5689682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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