A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569312



Internal ID16010035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45089800..45168224hg38UCSC Ensembl
Innerchr15:45381998..45460422hg19UCSC Ensembl
Innerchr15:43169290..43247714hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3878425
hg1978425
hg1878425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv842456
Samples
Known GenesDUOX1, DUOX2, DUOXA1, DUOXA2, SHF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569312
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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