A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587852



Internal ID16028575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45496498..45540367hg38UCSC Ensembl
Innerchr21:46916412..46960281hg19UCSC Ensembl
Innerchr21:45740840..45784709hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3843870
hg1943870
hg1843870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7903n54
Supporting Variantsnssv948535
Samples
Known GenesCOL18A1, SLC19A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587852
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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