A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599799



Internal ID16387208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138466715..138479962hg38UCSC Ensembl
Innerchr5:137802404..137815651hg19UCSC Ensembl
Innerchr5:137830303..137843550hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3813248
hg1913248
hg1813248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10088n54
Supporting Variantsnssv1042051
Samples
Known GenesEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599799
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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