A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587432



Internal ID16374841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34888828..34889846hg38UCSC Ensembl
Innerchr21:36261125..36262143hg19UCSC Ensembl
Innerchr21:35182995..35184013hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg381019
hg191019
hg181019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7825n54
Supporting Variantsnssv946696, nssv946695
Samples
Known GenesRUNX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587432
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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