A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5522n100



Internal ID22791609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:625176..809679hg38UCSC Ensembl
chr5:625291..809794hg19UCSC Ensembl
chr5:678291..862794hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38184504
hg19184504
hg18184504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019891, nsv1026685
Samples
Known GenesCEP72, TPPP, ZDHHC11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5522n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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