A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275643



Internal ID22227960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133015998..133104809hg38UCSC Ensembl
Outerchr6:133337137..133425948hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3888812
hg1988812
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195581
Supporting Variants
SamplesHG00733
Known GenesLINC00326
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275643
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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