A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266858



Internal ID22203695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14566112..14626057hg38UCSC Ensembl
Outerchr20:14546758..14606703hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3859946
hg1959946
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219574
Supporting Variants
SamplesHG00732
Known GenesMACROD2, MACROD2-IT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266858
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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