A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14332119



Internal ID22128883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165866419..165866419hg38UCSC Ensembl
chr6:166279907..166279907hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564566
Supporting Variants
SamplesHG00512
Known Genes
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)nssv14332119
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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