A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594110



Internal ID16381519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45478057..45593228hg38UCSC Ensembl
Innerchr4:45480074..45595245hg19UCSC Ensembl
Innerchr4:45174831..45290002hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38115172
hg19115172
hg18115172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9031n54
Supporting Variantsnssv1152681
SamplesHGDP01079
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594110
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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