A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598189



Internal ID16038912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815030..56818699hg38UCSC Ensembl
Innerchr5:56110857..56114526hg19UCSC Ensembl
Innerchr5:56146614..56150283hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383670
hg193670
hg183670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9789n54
Supporting Variantsnssv1030732
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598189
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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