A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5694n100



Internal ID20157310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69081291..69374274hg38UCSC Ensembl
chr5:68377118..68670101hg19UCSC Ensembl
chr5:68412874..68705857hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38292984
hg19292984
hg18292984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018151, nsv1035004
Samples
Known GenesAK6, CCDC125, CCNB1, CDK7, CENPH, MRPS36, RAD17, SLC30A5, TAF9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5694n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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