A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245513



Internal ID22376169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:553008..621535hg38UCSC Ensembl
Outerchr19:553008..621535hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384636
hg194636
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263407, nssv14262968, nssv14263406, nssv14262967
SamplesHG00512, NA19238, NA19239, HG00514
Known GenesBSG, HCN2, POLRMT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245513
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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