A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594550



Internal ID16035273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68549226..68631558hg38UCSC Ensembl
Innerchr4:69414944..69497276hg19UCSC Ensembl
Innerchr4:69097539..69179871hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3882333
hg1982333
hg1882333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002138
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594550
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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