A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273245



Internal ID22262510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178014762..178022927hg38UCSC Ensembl
Outerchr5:177441763..177449928hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388166
hg198166
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198653
Supporting Variants
SamplesNA19238
Known GenesFAM153C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273245
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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