A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587435



Internal ID16374844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34888828..34890332hg38UCSC Ensembl
Innerchr21:36261125..36262629hg19UCSC Ensembl
Innerchr21:35182995..35184499hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg381505
hg191505
hg181505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7827n54
Supporting Variantsnssv946706, nssv946705, nssv946707, nssv946703, nssv946704
Samples
Known GenesRUNX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587435
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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