A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194942



Internal ID22345194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170166465..170221855hg38UCSC Ensembl
Outerchr6:170481689..170531645hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3855391
hg1949957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277293
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194942
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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