A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263045



Internal ID22145751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4738781..4742840hg38UCSC Ensembl
Outerchr19:4738793..4742852hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240955
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263045
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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