A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212898



Internal ID22360009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:25762243..25846589hg38UCSC Ensembl
Outerchr20:25742879..25827225hg19UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg3884347
hg1984347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5213n152
Supporting Variantsnssv14266262, nssv14266261, nssv14266259, nssv14266263, nssv14266260
SamplesHG00512, NA19239, HG00731, NA19240, HG00733
Known GenesFAM182B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212898
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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