A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219207



Internal ID22364301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:81047901..81047952hg38UCSC Ensembl
chr11:80758944..80758995hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1478n152
Supporting Variantsnssv14358664, nssv14358669, nssv14358665, nssv14358667, nssv14358668, nssv14358666
SamplesHG00512, NA19239, HG00731, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219207
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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