A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266263



Internal ID22330489
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212898
Supporting Variants
SamplesNA19240
Known GenesFAM182B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266263
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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