A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236878



Internal ID22373719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24521650..24527982hg38UCSC Ensembl
Outerchr14:24990856..24997188hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386187
hg196187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258106, nssv14258105
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236878
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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