A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242473



Internal ID22375293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1271849..1295387hg38UCSC Ensembl
Outerchr11:1293079..1316617hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381528
hg191528
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254976
SamplesHG00732
Known GenesTOLLIP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242473
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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