A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228506



Internal ID22370671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65131079..65153165hg38UCSC Ensembl
Outerchr14:65597797..65619883hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3822087
hg1922087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258396, nssv14258397, nssv14258398, nssv14258395
SamplesHG00731, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228506
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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