A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238969



Internal ID22374298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121985325..122032486hg38UCSC Ensembl
Outerchr11:121856033..121903194hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg383361
hg193361
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1603n152
Supporting Variantsnssv14254181, nssv14254185, nssv14254182, nssv14254183, nssv14254187, nssv14254186, nssv14254184
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238969
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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