A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9573n54



Internal ID22777468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9545589..9546339hg38UCSC Ensembl
chr5:9545701..9546451hg19UCSC Ensembl
chr5:9598701..9599451hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38751
hg19751
hg18751
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597080, nsv597079
Samples
Known GenesSEMA5A, SNHG18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9573n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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