A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594580



Internal ID16035303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68763707..68840555hg38UCSC Ensembl
Innerchr4:69629425..69706273hg19UCSC Ensembl
Innerchr4:69664014..69740862hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3876849
hg1976849
hg1876849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152925
SamplesHGDP00844
Known GenesUGT2B10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594580
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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