A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598202



Internal ID16038925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815342..56816579hg38UCSC Ensembl
Innerchr5:56111169..56112406hg19UCSC Ensembl
Innerchr5:56146926..56148163hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381238
hg191238
hg181238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9792n54
Supporting Variantsnssv1030770
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598202
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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