A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518213



Internal ID15098820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45129560..45172570hg38UCSC Ensembl
Innerchr15:45421758..45464768hg19UCSC Ensembl
Innerchr15:43209050..43252060hg18UCSC Ensembl
Innerchr15:43209050..43252060hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3843011
hg1943011
hg1843011
hg1743011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695638
Samples
Known GenesDUOX1, DUOXA1, SHF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518213
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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