A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179711



Internal ID21627220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130952359..130952359hg38UCSC Ensembl
chr6:131273499..131273499hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5689639
Supporting Variants
Samples
Known GenesEPB41L2
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)nssv17179711
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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