A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556217



Internal ID16343626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104887308..104910586hg38UCSC Ensembl
Innerchr11:104758035..104781313hg19UCSC Ensembl
Innerchr11:104263245..104286523hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3823279
hg1923279
hg1823279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv783373
Samples
Known GenesCASP12, LOC643733
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556217
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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