A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv177n54



Internal ID20133601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18093650..18117498hg38UCSC Ensembl
chr1:18420144..18443992hg19UCSC Ensembl
chr1:18292731..18316579hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823849
hg1923849
hg1823849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545712, nsv545711
Samples
Known GenesIGSF21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv177n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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