A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597867



Internal ID16385276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:39073931..39081373hg38UCSC Ensembl
Innerchr5:39074033..39081475hg19UCSC Ensembl
Innerchr5:39109790..39117232hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg387443
hg197443
hg187443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029126
Samples
Known GenesRICTOR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597867
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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