A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5565n100



Internal ID22791652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9218820..9591178hg38UCSC Ensembl
chr5:9218932..9591290hg19UCSC Ensembl
chr5:9271932..9644290hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38372359
hg19372359
hg18372359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016885, nsv1026078
Samples
Known GenesSEMA5A, SNHG18, SNORD123
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5565n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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