A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221886



Internal ID22366127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69058001..69071750hg38UCSC Ensembl
chr11:68825469..68839218hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3813750
hg1913750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357059, nssv14357061, nssv14357057, nssv14357062, nssv14357065, nssv14357060, nssv14357063, nssv14357064, nssv14357058
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTPCN2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221886
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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