A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592827



Internal ID16033550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191346739..191355439hg38UCSC Ensembl
Innerchr3:191064528..191073228hg19UCSC Ensembl
Innerchr3:192547222..192555922hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388701
hg198701
hg188701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8794n54
Supporting Variantsnssv983582
Samples
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592827
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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