A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254205



Internal ID22130982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125859925..125868823hg38UCSC Ensembl
Outerchr11:125729820..125738718hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245510
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254205
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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