A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594764



Internal ID16035487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86056124..86058205hg38UCSC Ensembl
Innerchr4:86977277..86979358hg19UCSC Ensembl
Innerchr4:87196301..87198382hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg382082
hg192082
hg182082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9147n54
Supporting Variantsnssv1002644, nssv1002645
Samples
Known GenesMAPK10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594764
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer