A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230033



Internal ID22371689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69958343..69962363hg38UCSC Ensembl
chr11:69804449..69808469hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg384021
hg194021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357124, nssv14357128, nssv14357132, nssv14357131, nssv14357130, nssv14357126, nssv14357129, nssv14357125, nssv14357127
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230033
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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