A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590158



Internal ID16377567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:43286432..43293386hg38UCSC Ensembl
Innerchr3:43327924..43334878hg19UCSC Ensembl
Innerchr3:43302928..43309882hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg386955
hg196955
hg186955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8300n54
Supporting Variantsnssv962447
Samples
Known GenesSNRK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590158
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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