A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236506



Internal ID22373603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:80478329..80504984hg38UCSC Ensembl
Outerchr14:80944672..80971327hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381597
hg191597
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2682n152
Supporting Variantsnssv14259055, nssv14258214, nssv14259541
SamplesHG00731, HG00733, HG00514
Known GenesCEP128
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236506
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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