A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591246



Internal ID16378655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:105720678..105785285hg38UCSC Ensembl
Innerchr3:105439522..105504129hg19UCSC Ensembl
Innerchr3:106922212..106986819hg18UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3864608
hg1964608
hg1864608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8496n54
Supporting Variantsnssv1152518
Samples1780862177_A
Known GenesCBLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591246
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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