A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7216n100



Internal ID20158832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51571292..51606163hg38UCSC Ensembl
chr8:52483852..52518723hg19UCSC Ensembl
chr8:52646405..52681276hg18UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg3834872
hg1934872
hg1834872
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021919, nsv1025973, nsv1024196, nsv1031452
Samples
Known GenesPXDNL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7216n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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