A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590357



Internal ID16031080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53113560..53164998hg38UCSC Ensembl
Innerchr3:53147576..53199014hg19UCSC Ensembl
Innerchr3:53122616..53174054hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3851439
hg1951439
hg1851439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151887
SamplesHGDP00433
Known GenesPRKCD, RFT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590357
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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