A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587854



Internal ID16028577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45506383..45512201hg38UCSC Ensembl
Innerchr21:46926297..46932115hg19UCSC Ensembl
Innerchr21:45750725..45756543hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385819
hg195819
hg185819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948537
Samples
Known GenesCOL18A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587854
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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