A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594525



Internal ID16035248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68516362..68661688hg38UCSC Ensembl
Innerchr4:69382080..69527406hg19UCSC Ensembl
Innerchr4:69064675..69210001hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38145327
hg19145327
hg18145327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9104n54
Supporting Variantsnssv1001893
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594525
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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