A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599268



Internal ID16386677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:105123252..105695307hg38UCSC Ensembl
Innerchr5:104458953..105031008hg19UCSC Ensembl
Innerchr5:104486852..105058907hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38572056
hg19572056
hg18572056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039752
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599268
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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