A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238884



Internal ID22374279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:57374133..57377983hg38UCSC Ensembl
Outerchr11:57141606..57145456hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254695, nssv14254697, nssv14254696, nssv14254694
SamplesHG00512, NA19239, HG00731, HG00732
Known GenesPRG3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238884
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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