A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308498



Internal ID22132359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220466479..220466557hg38UCSC Ensembl
chr1:220639821..220639899hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208905
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308498
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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