A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275111



Internal ID22198405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1837462..1869651hg38UCSC Ensembl
Outerchr5:1837576..1869765hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381867
hg191867
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223779
Supporting Variants
SamplesHG00732
Known GenesLOC101929034
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275111
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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