A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14328199



Internal ID22285779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16458271..16463499hg38UCSC Ensembl
chr6:16458502..16463730hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385229
hg195229
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201279
Supporting Variants
SamplesNA19240
Known GenesATXN1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14328199
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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