A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254954



Internal ID22191079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:12823171..12835454hg38UCSC Ensembl
Outerchr11:12844718..12857001hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg382849
hg192849
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244607
Supporting Variants
SamplesHG00731
Known GenesTEAD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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