A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590205



Internal ID16030928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46811189..46888056hg38UCSC Ensembl
Innerchr3:46852679..46929546hg19UCSC Ensembl
Innerchr3:46827683..46904550hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3876868
hg1976868
hg1876868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8308n54
Supporting Variantsnssv962605
Samples
Known GenesMYL3, PRSS42, PTH1R
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590205
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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