A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584060



Internal ID16024783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188979274..189011412hg38UCSC Ensembl
Innerchr2:189844000..189876138hg19UCSC Ensembl
Innerchr2:189552245..189584383hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3832139
hg1932139
hg1832139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7234n54
Supporting Variantsnssv928427
Samples
Known GenesCOL3A1, MIR3606
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584060
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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