A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12228n54



Internal ID20145652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86174821..86321739hg38UCSC Ensembl
chr8:87187050..87333968hg19UCSC Ensembl
chr8:87256166..87403084hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38146919
hg19146919
hg18146919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611708, nsv611675
SamplesNINDS_9
Known GenesSLC7A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12228n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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