A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9049n54



Internal ID20142473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54077265..54164208hg38UCSC Ensembl
chr4:54943432..55030375hg19UCSC Ensembl
chr4:54638189..54725132hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3886944
hg1986944
hg1886944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv594202, nsv594203
Samples
Known GenesGSX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9049n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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