A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263248



Internal ID22134152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15910331..15940206hg38UCSC Ensembl
Outerchr19:16021141..16051016hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381859
hg191859
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235046
Supporting Variants
SamplesHG00513
Known GenesCYP4F11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263248
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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