A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583707



Internal ID16371116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177978862..177982648hg38UCSC Ensembl
Innerchr2:178843589..178847375hg19UCSC Ensembl
Innerchr2:178551835..178555621hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383787
hg193787
hg183787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7181n54
Supporting Variantsnssv927017, nssv927016
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583707
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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