A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594775



Internal ID16035498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86056551..86058256hg38UCSC Ensembl
Innerchr4:86977704..86979409hg19UCSC Ensembl
Innerchr4:87196728..87198433hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg381706
hg191706
hg181706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9148n54
Supporting Variantsnssv1002738, nssv1002739
Samples
Known GenesMAPK10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594775
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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