A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587407



Internal ID16028130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073078..34074312hg38UCSC Ensembl
Innerchr21:35445378..35446612hg19UCSC Ensembl
Innerchr21:34367248..34368482hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381235
hg191235
hg181235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7823n54
Supporting Variantsnssv946666
Samples
Known GenesMRPS6, SLC5A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587407
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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