A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556376



Internal ID15997099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107380125..107615872hg38UCSC Ensembl
Innerchr11:107250851..107486598hg19UCSC Ensembl
Innerchr11:106756061..106991808hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38235748
hg19235748
hg18235748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv784206
Samples
Known GenesALKBH8, CWF19L2, ELMOD1, LOC643923
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556376
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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