A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195581



Internal ID22345736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133015998..133104809hg38UCSC Ensembl
Outerchr6:133337137..133425948hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3888812
hg1988812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275639, nssv14275638, nssv14275644, nssv14275645, nssv14275642, nssv14275641, nssv14275640, nssv14275646, nssv14275643
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00326
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195581
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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