A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563091



Internal ID16350500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:109783606..109786921hg38UCSC Ensembl
Innerchr13:110435953..110439268hg19UCSC Ensembl
Innerchr13:109233954..109237269hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383316
hg193316
hg183316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3388n54
Supporting Variantsnssv819719
Samples
Known GenesIRS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563091
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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