A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594518



Internal ID16035241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68516362..68587178hg38UCSC Ensembl
Innerchr4:69382080..69452896hg19UCSC Ensembl
Innerchr4:69064675..69135491hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3870817
hg1970817
hg1870817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9102n54
Supporting Variantsnssv1001819, nssv1001818
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594518
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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