A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9559n54



Internal ID20142983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6713467..6714694hg38UCSC Ensembl
chr5:6713580..6714807hg19UCSC Ensembl
chr5:6766580..6767807hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381228
hg191228
hg181228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596972, nsv596973, nsv596970
Samples
Known GenesPAPD7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9559n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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