A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587858



Internal ID16028581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45509353..45512704hg38UCSC Ensembl
Innerchr21:46929267..46932618hg19UCSC Ensembl
Innerchr21:45753695..45757046hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383352
hg193352
hg183352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948541
Samples
Known GenesCOL18A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587858
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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