A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680803



Internal ID21707124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154241420..154241420hg38UCSC Ensembl
chr6:154562554..154562554hg19UCSC Ensembl
Cytoband6q25.2
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 Variantsnssv17181157
Samples
Known GenesIPCEF1, OPRM1
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)nsv5680803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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