A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212720



Internal ID22359886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:54848497..55018779hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38170283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254418, nssv14254417
SamplesNA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212720
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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