A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262073



Internal ID22145621
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221489
Supporting Variants
SamplesHG00514
Known GenesMYO5B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262073
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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