A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272596



Internal ID22265743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88052656..88107391hg38UCSC Ensembl
Outerchr5:87348473..87403208hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3854736
hg1954736
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209738
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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