A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594616



Internal ID16382025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69596324..69681535hg38UCSC Ensembl
Innerchr4:70462042..70547253hg19UCSC Ensembl
Innerchr4:70496631..70581842hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3885212
hg1985212
hg1885212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002226
Samples
Known GenesUGT2A1, UGT2A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594616
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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