A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597073



Internal ID16384482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9533742..9550530hg38UCSC Ensembl
Innerchr5:9533854..9550642hg19UCSC Ensembl
Innerchr5:9586854..9603642hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3816789
hg1916789
hg1816789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1024132
Samples
Known GenesSEMA5A, SNHG18, SNORD123
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597073
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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