A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209302



Internal ID22357405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:20388977..20402202hg38UCSC Ensembl
Outerchr6:20389208..20402433hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3813226
hg1913226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276695, nssv14276696
SamplesHG00512, HG00514
Known GenesE2F3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209302
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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