A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237111



Internal ID22373797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53834668..53847561hg38UCSC Ensembl
Outerchr20:52451207..52464100hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267290, nssv14267289, nssv14267291, nssv14267288
SamplesHG00512, NA19238, HG00731, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237111
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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