A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587927



Internal ID16375336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45969230..45973354hg38UCSC Ensembl
Innerchr21:47389144..47393268hg19UCSC Ensembl
Innerchr21:46213572..46217696hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384125
hg194125
hg184125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7909n54
Supporting Variantsnssv949258, nssv949272, nssv949264, nssv949260, nssv949268, nssv949263, nssv949259, nssv949265, nssv949257, nssv949269, nssv949261, nssv949262, nssv949271, nssv949270, nssv949266, nssv949267
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587927
Frequency
Sample Size17421
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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