A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276018



Internal ID22153748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:165294026..165323767hg38UCSC Ensembl
Outerchr6:165707515..165737256hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3829742
hg1929742
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209145
Supporting Variants
SamplesHG00514
Known GenesC6orf118
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276018
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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