A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266337



Internal ID22135172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32391817..32439450hg38UCSC Ensembl
Outerchr20:30979620..31027253hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3847634
hg1947634
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219715
Supporting Variants
SamplesHG00513
Known GenesASXL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266337
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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