A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222194



Internal ID22366350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:48201469..48295324hg38UCSC Ensembl
Outerchr14:48670672..48764527hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3893856
hg1993856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258393
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222194
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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