A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594766



Internal ID16035489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86056124..86058430hg38UCSC Ensembl
Innerchr4:86977277..86979583hg19UCSC Ensembl
Innerchr4:87196301..87198607hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg382307
hg192307
hg182307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9147n54
Supporting Variantsnssv1002649, nssv1002648, nssv1002647, nssv1002650
Samples
Known GenesMAPK10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594766
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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