A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587844



Internal ID16375253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45320104..45419989hg38UCSC Ensembl
Innerchr21:46740019..46839904hg19UCSC Ensembl
Innerchr21:45564447..45664332hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3899886
hg1999886
hg1899886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7900n54
Supporting Variantsnssv1151418
SamplesHGDP00137
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587844
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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