A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200889



Internal ID22350278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:80792318..80813284hg38UCSC Ensembl
Outerchr6:81502035..81523001hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3820967
hg1920967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276123, nssv14276124
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200889
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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