A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272670



Internal ID22277532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128068847..128075941hg38UCSC Ensembl
Outerchr5:127404539..127411633hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg387095
hg197095
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190701
Supporting Variants
SamplesNA19239
Known GenesFLJ33630
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272670
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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