A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258326



Internal ID22313653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:85725629..85742779hg38UCSC Ensembl
Outerchr14:86191973..86209123hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3817151
hg1917151
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217570
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258326
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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