A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272668



Internal ID22280692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:127995463..128011707hg38UCSC Ensembl
Outerchr5:127331155..127347399hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3816245
hg1916245
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196160
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272668
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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