A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266343



Internal ID22135174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50267318..50291224hg38UCSC Ensembl
Outerchr20:48883855..48907761hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3823907
hg1923907
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224479
Supporting Variants
SamplesHG00513
Known GenesLOC100506115
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266343
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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