A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255721



Internal ID22200251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:108702969..108732647hg38UCSC Ensembl
Outerchr11:108573696..108603374hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382729
hg192729
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242372
Supporting Variants
SamplesHG00732
Known GenesDDX10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255721
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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