A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243343



Internal ID22375543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6056953..6072841hg38UCSC Ensembl
Outerchr19:6056964..6072852hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381354
hg191354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263053, nssv14263060, nssv14263056, nssv14263059, nssv14263061, nssv14263054, nssv14263058, nssv14263055, nssv14263057
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRFX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243343
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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