A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266642



Internal ID22203627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23811900..23831754hg38UCSC Ensembl
Outerchr20:23792537..23812391hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3819855
hg1919855
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215841
Supporting Variants
SamplesHG00732
Known GenesCST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266642
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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