A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275597



Internal ID22129947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111899278..111908692hg38UCSC Ensembl
Outerchr6:112220481..112229895hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg389415
hg199415
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208198
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275597
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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