A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548403



Internal ID15989126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186673297..186731827hg38UCSC Ensembl
Innerchr1:186642429..186700959hg19UCSC Ensembl
Innerchr1:184909052..184967582hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3858531
hg1958531
hg1858531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729850
Samples
Known GenesPTGS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548403
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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