A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326469



Internal ID22316825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42658521..42658521hg38UCSC Ensembl
chr6:42626259..42626259hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564589
Supporting Variants
SamplesNA19240
Known GenesUBR2
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)nssv14326469
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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