A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241791



Internal ID22375070
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254539, nssv14254540, nssv14254537, nssv14254543, nssv14254542, nssv14254545, nssv14254538, nssv14254544, nssv14254541
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFOXRED1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241791
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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