A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594527



Internal ID16381936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68527784..68584847hg38UCSC Ensembl
Innerchr4:69393502..69450565hg19UCSC Ensembl
Innerchr4:69076097..69133160hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3857064
hg1957064
hg1857064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9108n54
Supporting Variantsnssv1001896
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594527
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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