A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590207



Internal ID16030930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46861871..46877889hg38UCSC Ensembl
Innerchr3:46903361..46919379hg19UCSC Ensembl
Innerchr3:46878365..46894383hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3816019
hg1916019
hg1816019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962607
Samples
Known GenesMYL3, PTH1R
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590207
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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