A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv883n54



Internal ID20134307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245472757..245484507hg38UCSC Ensembl
chr1:245636059..245647809hg19UCSC Ensembl
chr1:243702682..243714432hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3811751
hg1911751
hg1811751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549502, nsv549503, nsv549508, nsv549509, nsv549510
SamplesHGDP00683, HGDP00558
Known GenesKIF26B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv883n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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