A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329849



Internal ID22280566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56660999..56660999hg38UCSC Ensembl
chr6:56525797..56525797hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564463
Supporting Variants
SamplesNA19239
Known GenesDST, RNU6-71P
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)nssv14329849
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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