A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7870n54



Internal ID20141294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43405656..43419273hg38UCSC Ensembl
chr21:44825536..44839153hg19UCSC Ensembl
chr21:43649964..43663581hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813618
hg1913618
hg1813618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587677, nsv587679
Samples
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7870n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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