A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7868n54



Internal ID20141292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43401987..43419802hg38UCSC Ensembl
chr21:44821867..44839682hg19UCSC Ensembl
chr21:43646295..43664110hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3817816
hg1917816
hg1817816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587668, nsv587671, nsv587669, nsv587675, nsv587676, nsv587670, nsv587678, nsv587672
SamplesNINDS_211, 1780854486_A, HGDP00610
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7868n54
Frequency
Sample Size17421
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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