A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208198



Internal ID22356479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111899278..111908692hg38UCSC Ensembl
Outerchr6:112220481..112229895hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg389415
hg199415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275601, nssv14275603, nssv14275598, nssv14275602, nssv14275597, nssv14275596, nssv14275604, nssv14275600, nssv14275599
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208198
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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