A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276076



Internal ID22307255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170257233..170284933hg38UCSC Ensembl
Outerchr6:170566321..170594021hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3827701
hg1927701
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191041
Supporting Variants
SamplesNA19240
Known GenesDLL1, FLJ38122, LOC154449
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276076
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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