A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599113



Internal ID16386522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99009928..99021711hg38UCSC Ensembl
Innerchr5:98345632..98357415hg19UCSC Ensembl
Innerchr5:98373532..98385315hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3811784
hg1911784
hg1811784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9956n54
Supporting Variantsnssv1039510
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599113
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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