A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587930



Internal ID16028653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45969344..46003475hg38UCSC Ensembl
Innerchr21:47389258..47423389hg19UCSC Ensembl
Innerchr21:46213686..46247817hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3834132
hg1934132
hg1834132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949279
Samples
Known GenesCOL6A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587930
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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