A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260278



Internal ID22145356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88271309..88282703hg38UCSC Ensembl
Outerchr16:88304915..88316309hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3811395
hg1911395
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217924
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260278
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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