A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598205



Internal ID16038928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815393..56831971hg38UCSC Ensembl
Innerchr5:56111220..56127798hg19UCSC Ensembl
Innerchr5:56146977..56163555hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3816579
hg1916579
hg1816579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030773
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598205
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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