A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584156



Internal ID16371565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197553649..197687088hg38UCSC Ensembl
Innerchr2:198418373..198551812hg19UCSC Ensembl
Innerchr2:198126618..198260057hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38133440
hg19133440
hg18133440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930349
Samples
Known GenesHSPE1-MOB4, MOB4, RFTN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584156
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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