A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248473



Internal ID22376995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120866974..120880906hg38UCSC Ensembl
Outerchr11:120737683..120751615hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254161, nssv14254159, nssv14254162, nssv14254158, nssv14254160, nssv14254157, nssv14254156, nssv14254155
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGRIK4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248473
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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