A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266865



Internal ID22228404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:56661871..56680822hg38UCSC Ensembl
Outerchr20:55236927..55255878hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3818952
hg1918952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219562
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266865
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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