A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275202



Internal ID22270034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56376724..56381308hg38UCSC Ensembl
Outerchr5:55672551..55677135hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386147
hg196147
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225089
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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