A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545562



Internal ID15986285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13608156..13667603hg19UCSC Ensembl
Innerchr1:13480743..13540190hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg1959448
hg1859448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141n54
Supporting Variantsnssv710248
Samples
Known GenesPRAMEF15, PRAMEF7, PRAMEF8, PRAMEF9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545562
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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