A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv729847



Internal ID15677117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186671572..186673199hg38UCSC Ensembl
Innerchr1:186640704..186642331hg19UCSC Ensembl
Innerchr1:184907327..184908954hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381628
hg191628
hg181628
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548400
Supporting Variants
Samples
Known GenesPTGS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv729847
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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