A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5553n100



Internal ID22791640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2623490..2648402hg38UCSC Ensembl
chr5:2623604..2648516hg19UCSC Ensembl
chr5:2676604..2701516hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3824913
hg1924913
hg1824913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024927, nsv1026664
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5553n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer