A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6113n54



Internal ID20139537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79481665..79528806hg38UCSC Ensembl
chr18:77241665..77288806hg19UCSC Ensembl
chr18:75342653..75389794hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3847142
hg1947142
hg1847142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv577883, nsv577884
Samples
Known GenesNFATC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6113n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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