A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259804



Internal ID22201560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:184432..244899hg38UCSC Ensembl
Outerchr16:234431..294898hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382478
hg192478
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230768
Supporting Variants
SamplesHG00732
Known GenesITFG3, LUC7L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259804
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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