A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545123



Internal ID15985846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3373165..3384566hg38UCSC Ensembl
Innerchr1:3289729..3301130hg19UCSC Ensembl
Innerchr1:3279589..3290990hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3811402
hg1911402
hg1811402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1172589
SamplesHGDP00788
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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