A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197701



Internal ID22347545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:69483123..69495688hg38UCSC Ensembl
Outerchr6:70193015..70205580hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3812566
hg1912566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7956n152
Supporting Variantsnssv14274835, nssv14274836
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197701
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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