A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9484n54



Internal ID22777379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:467509..474821hg38UCSC Ensembl
chr5:467624..474936hg19UCSC Ensembl
chr5:520624..527936hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387313
hg197313
hg187313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596660, nsv596653, nsv596672, nsv596671, nsv596668, nsv596646, nsv596654, nsv596642, nsv596643, nsv596669, nsv596666, nsv596673, nsv596639, nsv596641, nsv596664, nsv596645, nsv596665, nsv596644
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9484n54
Frequency
Sample Size17421
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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