A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7220n100



Internal ID20158836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52580301..52810024hg38UCSC Ensembl
chr8:53492861..53722584hg19UCSC Ensembl
chr8:53655414..53885137hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38229724
hg19229724
hg18229724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027315, nsv1031365
Samples
Known GenesRB1CC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7220n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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