A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248463



Internal ID22376991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15703465..15794126hg38UCSC Ensembl
Outerchr19:15814275..15904936hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382386
hg192386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263125, nssv14263127, nssv14263126
SamplesHG00512, NA19238, HG00513
Known GenesCYP4F24P, OR10H2, OR10H3, OR10H5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248463
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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