A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv841n54



Internal ID22768736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228493494..228543976hg38UCSC Ensembl
chr1:228681195..228731677hg19UCSC Ensembl
chr1:226747818..226798300hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3850483
hg1950483
hg1850483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549297, nsv549298
SamplesHGDP00560
Known GenesRNF187
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv841n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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