A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1n54



Internal ID22767896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45531..121042hg38UCSC Ensembl
chr1:45531..121042hg19UCSC Ensembl
chr1:35394..110905hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3875512
hg1975512
hg1875512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv544866, nsv544869, nsv544868
Samples
Known GenesOR4F5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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