A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596668



Internal ID16384077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:468025..474821hg38UCSC Ensembl
Innerchr5:468140..474936hg19UCSC Ensembl
Innerchr5:521140..527936hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg386797
hg196797
hg186797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9484n54
Supporting Variantsnssv1021226
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596668
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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