A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554119



Internal ID15994842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:42530505..43398360hg38UCSC Ensembl
Innerchr11:42552055..43419910hg19UCSC Ensembl
Innerchr11:42508631..43376486hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38867856
hg19867856
hg18867856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv771647
Samples
Known GenesAPI5, HNRNPKP3, TTC17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554119
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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