A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273619



Internal ID22215787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115387657..115427812hg38UCSC Ensembl
Outerchr5:114723354..114763509hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3840156
hg1940156
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210197
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273619
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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