A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256141



Internal ID22300171
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241451
Supporting Variants
SamplesNA19240
Known GenesCDX2, FLT3, URAD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256141
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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