A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594528



Internal ID16035251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68528033..68585366hg38UCSC Ensembl
Innerchr4:69393751..69451084hg19UCSC Ensembl
Innerchr4:69076346..69133679hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3857334
hg1957334
hg1857334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9108n54
Supporting Variantsnssv1001897
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594528
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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