A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9554n54



Internal ID20142978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6712921..6714601hg38UCSC Ensembl
chr5:6713034..6714714hg19UCSC Ensembl
chr5:6766034..6767714hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596955, nsv596960, nsv596956
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9554n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss3
Observed Complex0
Frequencyn/a


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