A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234505



Internal ID22373051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:68309132..68329761hg38UCSC Ensembl
Outerchr14:68775849..68796478hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg386037
hg196037
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258962, nssv14258961
SamplesNA19239, NA19240
Known GenesRAD51B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234505
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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