A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587417



Internal ID16374826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073293..34074312hg38UCSC Ensembl
Innerchr21:35445593..35446612hg19UCSC Ensembl
Innerchr21:34367463..34368482hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381020
hg191020
hg181020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946681, nssv946680
Samples
Known GenesMRPS6, SLC5A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587417
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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