A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595476



Internal ID16036199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:134001210..134255181hg38UCSC Ensembl
Innerchr4:134922365..135176336hg19UCSC Ensembl
Innerchr4:135141815..135395786hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38253972
hg19253972
hg18253972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9275n54
Supporting Variantsnssv1006924, nssv1006923, nssv1006922
Samples
Known GenesPABPC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595476
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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