A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276628



Internal ID22275800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:105698019..105713941hg38UCSC Ensembl
Outerchr6:106145894..106161816hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3815923
hg1915923
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203130
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276628
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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