A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273467



Internal ID22269841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14844788..14865958hg38UCSC Ensembl
Outerchr4:14846412..14867582hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg385522
hg195522
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219157
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273467
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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