A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221489



Internal ID22365861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50165565..50210704hg38UCSC Ensembl
Outerchr18:47691935..47737074hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3845140
hg1945140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262073, nssv14262072, nssv14262071, nssv14262074, nssv14262075
SamplesHG00512, NA19239, HG00731, HG00513, HG00514
Known GenesMYO5B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221489
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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