A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243168



Internal ID22375495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66947122..66960697hg38UCSC Ensembl
Outerchr14:67413839..67427414hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386194
hg196194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258201, nssv14258200, nssv14258199, nssv14258202
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesGPHN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243168
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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