A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209145



Internal ID22357264
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276022, nssv14276020, nssv14276017, nssv14276016, nssv14276023, nssv14276019, nssv14276024, nssv14276018, nssv14276021
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC6orf118
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209145
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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