A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214680



Internal ID22361263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15910331..15943538hg38UCSC Ensembl
Outerchr19:16021141..16054348hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3833208
hg1933208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263589, nssv14263590
SamplesNA19239, NA19240
Known GenesCYP4F11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214680
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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