A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213763



Internal ID22360604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111358310..111358392hg38UCSC Ensembl
chr11:111229035..111229117hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1578n152
Supporting Variantsnssv14361540, nssv14361539
SamplesNA19239, HG00514
Known GenesPOU2AF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213763
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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