A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258372



Internal ID22118576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:82521567..82536069hg38UCSC Ensembl
Outerchr14:82987911..83002413hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3814503
hg1914503
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217819
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258372
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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