A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260409



Internal ID22240164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81757155..81767012hg38UCSC Ensembl
Outerchr16:81790760..81800617hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245349
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260409
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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