A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591244



Internal ID16378653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:105719476..105776997hg38UCSC Ensembl
Innerchr3:105438320..105495841hg19UCSC Ensembl
Innerchr3:106921010..106978531hg18UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3857522
hg1957522
hg1857522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8496n54
Supporting Variantsnssv971267
Samples
Known GenesCBLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591244
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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