A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258708



Internal ID22118714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25316358..25340183hg38UCSC Ensembl
Outerchr16:25327679..25351504hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3823826
hg1923826
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222968
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258708
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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