A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258764



Internal ID22265430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:55199406..55201217hg38UCSC Ensembl
Outerchr15:55491604..55493415hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381812
hg191812
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215376
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258764
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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