A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5859n54



Internal ID22773754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12657196..12658046hg38UCSC Ensembl
chr18:12657195..12658045hg19UCSC Ensembl
chr18:12647195..12648045hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38851
hg19851
hg18851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv576509, nsv576501
Samples
Known GenesSPIRE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5859n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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