A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243192



Internal ID22375502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21259313..21281055hg38UCSC Ensembl
Outerchr14:21727472..21749214hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg384373
hg194373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257593, nssv14257596, nssv14257595, nssv14257590, nssv14257594, nssv14257592, nssv14257591
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513
Known GenesHNRNPC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243192
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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