A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266641



Internal ID22258244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:21293089..21310984hg38UCSC Ensembl
Outerchr20:21273727..21291622hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3817896
hg1917896
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223570
Supporting Variants
SamplesNA19238
Known GenesXRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266641
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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