A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320360



Internal ID22136521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16624289..16624342hg38UCSC Ensembl
chr5:16624398..16624451hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204362
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320360
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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