A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244385



Internal ID22375847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:50071343..50075168hg38UCSC Ensembl
Outerchr14:50538061..50541886hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258156, nssv14258159, nssv14258151, nssv14258155, nssv14258152, nssv14258157, nssv14258158, nssv14258154, nssv14258153
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244385
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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