A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv113n54



Internal ID20133537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12184201..12188963hg38UCSC Ensembl
chr1:12244258..12249020hg19UCSC Ensembl
chr1:12166845..12171607hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384763
hg194763
hg184763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545441, nsv545440
Samples
Known GenesTNFRSF1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv113n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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