A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320339



Internal ID22130291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14641525..14642012hg38UCSC Ensembl
chr5:14641634..14642121hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193241
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320339
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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