A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275590



Internal ID22300821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:109850974..109864665hg38UCSC Ensembl
Outerchr6:110172177..110185868hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3813692
hg1913692
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204400
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275590
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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