A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587850



Internal ID16375259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45448915..45499218hg38UCSC Ensembl
Innerchr21:46868829..46919132hg19UCSC Ensembl
Innerchr21:45693257..45743560hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3850304
hg1950304
hg1850304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151421
SamplesHGDP00518
Known GenesCOL18A1, MIR6815
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587850
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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