A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569313



Internal ID16010036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45121343..45165260hg38UCSC Ensembl
Innerchr15:45413541..45457458hg19UCSC Ensembl
Innerchr15:43200833..43244750hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3843918
hg1943918
hg1843918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv842457
Samples
Known GenesDUOX1, DUOXA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569313
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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