A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7218n100



Internal ID20158834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52389530..53007050hg38UCSC Ensembl
chr8:53302090..53919610hg19UCSC Ensembl
chr8:53464643..54082163hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38617521
hg19617521
hg18617521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017130, nsv1023704, nsv1034284
Samples
Known GenesFAM150A, NPBWR1, RB1CC1, ST18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7218n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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