A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266335



Internal ID22135166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23811900..23834873hg38UCSC Ensembl
Outerchr20:23792537..23815510hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3822974
hg1922974
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216349
Supporting Variants
SamplesHG00513
Known GenesCST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266335
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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