A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682778



Internal ID21709099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14561174..14561174hg38UCSC Ensembl
chr6:14561405..14561405hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179195, nssv17213583
Samples
Known Genes
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)nsv5682778
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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