A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7215n100



Internal ID20158831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51498883..51974205hg38UCSC Ensembl
chr8:52411443..52886765hg19UCSC Ensembl
chr8:52573996..53049318hg18UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38475323
hg19475323
hg18475323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018429, nsv1034856
Samples
Known GenesPCMTD1, PXDNL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7215n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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