A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590366



Internal ID16377775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57442609..57503864hg38UCSC Ensembl
Innerchr3:57428336..57489591hg19UCSC Ensembl
Innerchr3:57403376..57464631hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3861256
hg1961256
hg1861256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8337n54
Supporting Variantsnssv963365
Samples
Known GenesDNAH12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590366
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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