A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266354



Internal ID22146237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4752901..4768615hg38UCSC Ensembl
Outerchr20:4733547..4749261hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3815715
hg1915715
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226669
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266354
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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