A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259933



Internal ID22222660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81700274..81721068hg38UCSC Ensembl
Outerchr16:81733879..81754673hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235101
Supporting Variants
SamplesHG00733
Known GenesCMIP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259933
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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