A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556218



Internal ID16343627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104903287..105372644hg38UCSC Ensembl
Innerchr11:104774014..105243371hg19UCSC Ensembl
Innerchr11:104279224..104748581hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38469358
hg19469358
hg18469358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175396
Samples1780862563_A
Known GenesCARD16, CARD17, CARD18, CASP1, CASP4, CASP5, LOC643733
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556218
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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