A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587406



Internal ID16028129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073078..34074261hg38UCSC Ensembl
Innerchr21:35445378..35446561hg19UCSC Ensembl
Innerchr21:34367248..34368431hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381184
hg191184
hg181184
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7822n54
Supporting Variantsnssv946660, nssv946664, nssv946663, nssv946662, nssv946661, nssv946665
Samples
Known GenesMRPS6, SLC5A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587406
Frequency
Sample Size17421
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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