A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678248



Internal ID21704569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53992529..53992529hg38UCSC Ensembl
chr6:53857327..53857327hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222016, nssv17178898
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)nsv5678248
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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