A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218800



Internal ID22364029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:48845797..48868370hg38UCSC Ensembl
Outerchr14:49315000..49337573hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3822574
hg1922574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257177, nssv14257176
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218800
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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