A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14330973



Internal ID22206742
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564305
Supporting Variants
SamplesHG00732
Known GenesEPB41L2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14330973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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