A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598206



Internal ID16038929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815495..56816380hg38UCSC Ensembl
Innerchr5:56111322..56112207hg19UCSC Ensembl
Innerchr5:56147079..56147964hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38886
hg19886
hg18886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9792n54
Supporting Variantsnssv1030774
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598206
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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