A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587446



Internal ID16028169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34889243..34890154hg38UCSC Ensembl
Innerchr21:36261540..36262451hg19UCSC Ensembl
Innerchr21:35183410..35184321hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38912
hg19912
hg18912
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946738, nssv946739
Samples
Known GenesRUNX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587446
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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