A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263259



Internal ID22134162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45310655..45311868hg38UCSC Ensembl
Outerchr19:45813913..45815126hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244239
Supporting Variants
SamplesHG00513
Known GenesCKM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263259
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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