A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598947



Internal ID16386356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:93584115..93585189hg38UCSC Ensembl
Innerchr5:92919821..92920895hg19UCSC Ensembl
Innerchr5:92945577..92946651hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381075
hg191075
hg181075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9936n54
Supporting Variantsnssv1038092
Samples
Known GenesNR2F1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598947
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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