A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594560



Internal ID16381969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68575796..68648408hg38UCSC Ensembl
Innerchr4:69441514..69514126hg19UCSC Ensembl
Innerchr4:69124109..69196721hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3872613
hg1972613
hg1872613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9111n54
Supporting Variantsnssv992733
Samples
Known GenesUGT2B15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594560
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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