A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178902



Internal ID21626411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54197979..54197979hg38UCSC Ensembl
chr6:54062777..54062777hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5674410
Supporting Variants
Samples
Known GenesMLIP
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)nssv17178902
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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