A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241451



Internal ID22374977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:27969156..28008587hg38UCSC Ensembl
Outerchr13:28543293..28582724hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257298, nssv14256141, nssv14256140, nssv14256138, nssv14257297, nssv14256139, nssv14256137
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesCDX2, FLT3, URAD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241451
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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