A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275340



Internal ID22228904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167070412..167103971hg38UCSC Ensembl
Outerchr6:167483900..167517459hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3833560
hg1933560
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207114
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275340
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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