A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7219n100



Internal ID22793306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52495153..52580301hg38UCSC Ensembl
chr8:53407713..53492861hg19UCSC Ensembl
chr8:53570266..53655414hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3885149
hg1985149
hg1885149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017527, nsv1028813
Samples
Known GenesFAM150A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7219n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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