A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598208



Internal ID16038931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815495..56818023hg38UCSC Ensembl
Innerchr5:56111322..56113850hg19UCSC Ensembl
Innerchr5:56147079..56149607hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382529
hg192529
hg182529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030778
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598208
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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