A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946722



Internal ID16240678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34888938..34889994hg38UCSC Ensembl
Innerchr21:36261235..36262291hg19UCSC Ensembl
Innerchr21:35183105..35184161hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg381057
hg191057
hg181057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587438
Supporting Variants
Samples
Known GenesRUNX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946722
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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