A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587405



Internal ID16028128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073078..34074140hg38UCSC Ensembl
Innerchr21:35445378..35446440hg19UCSC Ensembl
Innerchr21:34367248..34368310hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381063
hg191063
hg181063
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7822n54
Supporting Variantsnssv946655, nssv946658, nssv946656, nssv946657, nssv946659
Samples
Known GenesMRPS6, SLC5A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587405
Frequency
Sample Size17421
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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