A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599659



Internal ID16387068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:125634063..125698920hg38UCSC Ensembl
Innerchr5:124969756..125034613hg19UCSC Ensembl
Innerchr5:124997655..125062512hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3864858
hg1964858
hg1864858
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032089
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599659
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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