A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594767



Internal ID16035490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86056124..86058695hg38UCSC Ensembl
Innerchr4:86977277..86979848hg19UCSC Ensembl
Innerchr4:87196301..87198872hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg382572
hg192572
hg182572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9147n54
Supporting Variantsnssv1002656, nssv1002651, nssv1002653, nssv1002654, nssv1002655, nssv1002652, nssv1002657
Samples
Known GenesMAPK10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594767
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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