A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599798



Internal ID16387207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138465844..138479901hg38UCSC Ensembl
Innerchr5:137801533..137815590hg19UCSC Ensembl
Innerchr5:137829432..137843489hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3814058
hg1914058
hg1814058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10088n54
Supporting Variantsnssv1042050
Samples
Known GenesEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599798
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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