A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254981



Internal ID22199989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36504261..36537278hg38UCSC Ensembl
Outerchr11:36525811..36558828hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg387200
hg197200
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231979
Supporting Variants
SamplesHG00732
Known GenesTRAF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254981
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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