A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594519



Internal ID16035242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68516362..68596581hg38UCSC Ensembl
Innerchr4:69382080..69462299hg19UCSC Ensembl
Innerchr4:69064675..69144894hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3880220
hg1980220
hg1880220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1001820
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594519
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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