A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598683



Internal ID16039406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76790772..76833228hg38UCSC Ensembl
Innerchr5:76086597..76129053hg19UCSC Ensembl
Innerchr5:76122353..76164809hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3842457
hg1942457
hg1842457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9885n54
Supporting Variantsnssv1035143
Samples
Known GenesF2RL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598683
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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