A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694215



Internal ID21720536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136704079..136704079hg38UCSC Ensembl
chr6:137025217..137025217hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215146, nssv17179737
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)nsv5694215
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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