A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611355



Internal ID16052078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52490251..52776552hg38UCSC Ensembl
Innerchr8:53402811..53689112hg19UCSC Ensembl
Innerchr8:53565364..53851665hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38286302
hg19286302
hg18286302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1115324
Samples
Known GenesFAM150A, RB1CC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611355
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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