A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594510



Internal ID16035233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509002..68622792hg38UCSC Ensembl
Innerchr4:69374720..69488510hg19UCSC Ensembl
Innerchr4:69057315..69171105hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38113791
hg19113791
hg18113791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9104n54
Supporting Variantsnssv1001807
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594510
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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