A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260280



Internal ID22184108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:13606591..13640953hg38UCSC Ensembl
Outerchr16:13700448..13734810hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3834363
hg1934363
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215242
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260280
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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