A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563223



Internal ID16003946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112504873..112744470hg38UCSC Ensembl
Innerchr13:113159187..113398784hg19UCSC Ensembl
Innerchr13:112207188..112446785hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38239598
hg19239598
hg18239598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3417n54
Supporting Variantsnssv820150
Samples
Known GenesATP11A, C13orf35, TUBGCP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563223
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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