A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273273



Internal ID22322018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181317467..181336686hg38UCSC Ensembl
Outerchr5:180744468..180763687hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3819220
hg1919220
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197176
Supporting Variants
SamplesNA19240
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273273
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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