A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254540



Internal ID22187375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126272634..126280185hg38UCSC Ensembl
Outerchr11:126142529..126150080hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382191
hg192191
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241791
Supporting Variants
SamplesHG00731
Known GenesFOXRED1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254540
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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