A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548401



Internal ID15989124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186671926..186673926hg38UCSC Ensembl
Innerchr1:186641058..186643058hg19UCSC Ensembl
Innerchr1:184907681..184909681hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg382001
hg192001
hg182001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv666n54
Supporting Variantsnssv729848
Samples
Known GenesPTGS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548401
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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