A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237472



Internal ID22373884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:75730334..75741627hg38UCSC Ensembl
Outerchr11:75441379..75452672hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg382077
hg192077
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255143, nssv14255144, nssv14255142, nssv14255141
SamplesHG00512, NA19238, NA19240, HG00514
Known GenesMOGAT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237472
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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