A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587430



Internal ID16028153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34883524..34889569hg38UCSC Ensembl
Innerchr21:36255821..36261866hg19UCSC Ensembl
Innerchr21:35177691..35183736hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg386046
hg196046
hg186046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946693
Samples
Known GenesRUNX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587430
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer