A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259712



Internal ID22256402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:26372154..26389707hg38UCSC Ensembl
Outerchr16:26383475..26401028hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243004
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259712
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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