A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215886



Internal ID22362063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44672616..44689380hg38UCSC Ensembl
Outerchr20:43301257..43318021hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3816765
hg1916765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266340, nssv14266338, nssv14266339, nssv14266341
SamplesHG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215886
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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