A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259697



Internal ID22270439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25602541..25632343hg38UCSC Ensembl
Outerchr16:25613862..25643664hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3829803
hg1929803
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222734
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259697
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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