A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266312



Internal ID22121180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:18206849..18218976hg38UCSC Ensembl
Outerchr20:18187493..18199620hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3812128
hg1912128
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219575
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266312
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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