A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599435



Internal ID16386844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114621549..114830371hg38UCSC Ensembl
Innerchr5:113957246..114166068hg19UCSC Ensembl
Innerchr5:113985145..114193967hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38208823
hg19208823
hg18208823
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040458
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599435
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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