A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260324



Internal ID22201738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:86460883..86466552hg38UCSC Ensembl
Outerchr16:86494489..86500158hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232859
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260324
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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