A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258227



Internal ID22198762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:53238546..53242433hg38UCSC Ensembl
Outerchr14:53705264..53709151hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg386150
hg196150
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240728
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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