A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260751



Internal ID22307829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1851576..1894580hg38UCSC Ensembl
Outerchr16:1901577..1944581hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381342
hg191342
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236533
Supporting Variants
SamplesNA19240
Known GenesLINC00254, MEIOB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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