A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553229



Internal ID16340638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5248576..5254407hg38UCSC Ensembl
Innerchr11:5269806..5275637hg19UCSC Ensembl
Innerchr11:5226382..5232213hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg385832
hg195832
hg185832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv765352
Samples
Known GenesHBG1, HBG2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553229
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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