A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12173n54



Internal ID20145597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55794435..55963660hg38UCSC Ensembl
chr8:56706994..56876219hg19UCSC Ensembl
chr8:56869548..57038773hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38169226
hg19169226
hg18169226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611395, nsv611394, nsv611396, nsv611397
SamplesNINDS_186, 1780854477_A, 1780862082_A
Known GenesLYN, TGS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12173n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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