A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598187



Internal ID16038910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815030..56815768hg38UCSC Ensembl
Innerchr5:56110857..56111595hg19UCSC Ensembl
Innerchr5:56146614..56147352hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38739
hg19739
hg18739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030726
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598187
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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