A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680036



Internal ID21706357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136706771..136706771hg38UCSC Ensembl
chr6:137027909..137027909hg19UCSC Ensembl
Cytoband6q23.3
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 Variantsnssv17179738
Samples
Known GenesMAP3K5
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)nsv5680036
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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