A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597378



Internal ID16384787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18714099..18854320hg38UCSC Ensembl
Innerchr5:18714208..18854429hg19UCSC Ensembl
Innerchr5:18749965..18890186hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38140222
hg19140222
hg18140222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026413
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597378
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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