A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266592



Internal ID22224319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1400045..1417401hg38UCSC Ensembl
Outerchr20:1380689..1398045hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3817357
hg1917357
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219053
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266592
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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